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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SHANK1_chr19_50654255_50724802  SHANK1_chr19_50654255_50724802 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 50944
ensemblid ENSG00000161681.17
hgncid 15474
symbol SHANK1
name SH3 and multiple ankyrin repeat domains 1
refseq_nuc NM_016148.5
refseq_prot NP_057232.2
ensembl_nuc ENST00000293441.6
ensembl_prot ENSP00000293441.1
mane_status MANE Select
chr chr19
start 50659255
end 50719802
strand -
ver v1.2
region chr19:50659255-50719802
region5000 chr19:50654255-50724802
regionname0 SHANK1_chr19_50659255_50719802
regionname5000 SHANK1_chr19_50654255_50724802

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 2161 185 75 47 31 10 22 18 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002 1/1 2161 95 6 15 55 3 14 38 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003 0/0 2161 20 5 1 9 1 4 5 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0004 0/0 2161 2 0 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0005 0/0 2161 1 0 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0006 0/0 2161 1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0007 0/0 2161 1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0008 0/0 2161 1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0009 0/0 2161 1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0010 0/0 2161 1 0 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0011 0/0 2161 1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0012 0/0 2161 1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0013 0/0 2161 1 0 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0014 0/0 2161 1 0 0 1 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0015 0/0 2161 1 0 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0016 0/0 2161 1 0 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0017 0/0 2161 1 0 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0018 0/0 2161 1 0 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 6486 88 6 15 48 3 14 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0002 0/0 6486 78 7 25 27 6 13 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0003 0/0 6486 51 33 11 2 2 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0004 0/0 6486 20 14 3 0 0 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0005 0/0 6486 12 0 1 9 1 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0006 0/0 6486 8 5 0 0 0 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0007 0/0 6486 5 5 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0008 0/0 6486 5 0 0 5 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0009 0/0 6486 4 4 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0010 0/0 6486 4 0 2 0 0 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0011 0/0 6486 3 1 1 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0012 0/0 6486 3 0 3 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0013 0/0 6486 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0014 0/0 6486 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0015 0/0 6486 2 0 0 1 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0016 0/0 6486 2 1 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0017 0/0 6486 2 0 2 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0018 0/0 6486 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0019 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0020 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0021 0/0 6486 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0022 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0023 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0024 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0025 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0026 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0027 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0028 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0029 0/0 6486 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0030 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0031 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0032 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0033 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0034 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0035 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0036 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0037 0/0 6486 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0038 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0039 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0040 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
c0041 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 3167 35 4 17 5 3 6 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0002 0/0 3152 28 1 4 20 1 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0003 0/0 3149 17 2 3 8 3 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0004 0/0 3153 15 6 9 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0005 0/0 3153 15 0 2 10 0 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0006 0/0 3168 12 2 7 0 1 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0007 0/0 3151 11 9 1 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0008 0/0 3152 10 7 2 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0009 0/0 3150 10 0 2 5 0 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0010 0/0 3149 8 4 1 0 2 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0011 0/0 3150 6 5 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0012 0/0 3150 6 5 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0013 0/0 3153 5 0 0 5 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0014 0/0 3169 5 2 1 0 0 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0015 0/0 3151 4 1 0 3 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0016 0/0 3152 4 2 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0017 0/0 3153 4 2 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0018 0/0 3152 4 2 1 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0019 0/0 3154 4 0 0 2 0 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0020 0/0 3151 4 1 0 3 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0021 0/0 3153 3 0 0 3 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0022 0/0 3151 3 3 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0023 0/0 3146 3 3 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0024 0/0 3150 3 3 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0025 0/0 3150 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0026 0/0 3154 2 0 1 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0027 0/0 3154 2 0 0 1 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0028 0/0 3146 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0029 0/0 3149 2 1 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0030 0/0 3167 2 1 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0031 0/0 3168 2 0 0 0 2 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0032 0/0 3153 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0033 0/0 3153 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0034 0/0 3167 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0035 0/0 3150 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0036 0/0 3170 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0037 0/0 3153 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0038 0/0 3156 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0039 0/0 3168 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0040 0/0 3168 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0041 0/0 3169 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0042 0/0 3152 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0043 0/0 3150 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0044 0/0 3169 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0045 0/0 3170 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0046 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0047 0/0 3153 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0048 0/0 3155 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0049 0/0 3155 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0050 0/0 3151 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0051 0/0 3153 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0052 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0053 0/0 3152 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0054 0/0 3167 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0055 0/0 3168 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0056 0/0 3169 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0057 0/0 3152 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0058 0/0 3153 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0059 0/0 3153 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0060 0/0 3152 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0061 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0062 0/0 3155 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0063 0/0 3149 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0064 0/0 3150 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0065 0/0 3154 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0066 0/0 3155 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0067 0/0 3153 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0068 0/0 3169 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0069 0/0 3153 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0070 0/0 3154 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0071 0/0 3152 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0072 0/0 3167 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0073 0/0 3150 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0074 0/0 3149 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0075 0/0 3150 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0076 0/0 3150 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0077 0/0 3150 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0078 0/0 3169 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0079 0/0 3152 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0080 0/0 3152 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0081 0/0 3152 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0082 0/0 3153 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0083 0/0 3150 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0084 0/0 3151 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0085 0/0 3152 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0086 0/0 3151 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0087 0/1 3152 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0088 0/0 3153 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0089 0/0 3153 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0090 0/0 3153 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0091 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0092 0/0 3155 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0093 0/0 3155 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0094 0/0 3155 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0095 0/0 3149 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0096 0/0 3152 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0097 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0098 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0099 0/0 3147 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0100 0/0 3168 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0101 0/0 3169 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0102 0/0 3153 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0103 0/0 3154 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0104 0/0 3168 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0105 0/0 3153 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0106 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0107 0/0 3154 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0108 0/0 3153 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0109 0/0 3152 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0110 0/0 3153 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0111 1/0 3151 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
t0112 0/0 3168 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 0 2 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0002 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0003 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0004 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0005 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0006 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0007 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0008 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0009 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0010 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0011 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0012 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0013 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0014 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0015 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0016 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0017 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0018 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0019 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0020 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0021 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0022 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0023 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0024 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0025 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0026 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0027 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0028 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0029 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0030 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0031 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0032 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0033 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0034 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0035 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0036 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0037 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0038 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0039 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0040 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0041 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0042 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0043 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0044 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0045 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0046 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0047 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0048 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0049 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0050 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0051 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0052 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0053 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0054 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0055 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0056 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0057 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0058 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0059 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0060 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0061 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0062 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0063 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0064 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0065 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0066 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0067 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0068 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0069 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0070 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0071 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0072 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0073 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0074 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0075 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0076 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0077 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0078 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0079 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0080 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0081 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0082 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0083 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0084 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0085 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0086 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0087 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0088 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0089 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0090 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0091 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0092 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0093 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0094 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0095 0/1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0096 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0097 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0098 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0099 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0100 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0101 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0102 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0103 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0104 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0105 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0106 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0107 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0108 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0109 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0110 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0111 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0112 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0113 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0114 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0115 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0116 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0117 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0118 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0119 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0120 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0121 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0122 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0123 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0124 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0125 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0126 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0127 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0128 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0129 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0130 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0131 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0132 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0133 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0134 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0135 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0136 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0137 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0138 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0139 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0140 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0141 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0142 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0143 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0144 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0145 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0146 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0147 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0148 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0149 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0150 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0151 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0152 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0153 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0154 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0155 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0156 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0157 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0158 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0159 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0160 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0161 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0162 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0163 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0164 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0165 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0166 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0167 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0168 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0169 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0170 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0171 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0172 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0173 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0174 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0175 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0176 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0177 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0178 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0179 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0180 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0181 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0182 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0183 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0184 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0185 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0186 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0187 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0188 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0189 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0190 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0191 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0192 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0193 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0194 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0195 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0196 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0197 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0198 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0199 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0200 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0201 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0202 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0203 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0204 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0205 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0206 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0207 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0208 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0209 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0210 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0211 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0212 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0213 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0214 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0215 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0216 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0217 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0218 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0219 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0220 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0221 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0222 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0223 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0224 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0225 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0226 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0227 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0228 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0229 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0230 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0231 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0232 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0233 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0234 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0235 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0236 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0237 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0238 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0239 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0240 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0241 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0242 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0243 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0244 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0245 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0246 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0247 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0248 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0249 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0250 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0251 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0252 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0253 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0254 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0255 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0256 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0257 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0258 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0259 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0260 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0261 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0262 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0263 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0264 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0265 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0266 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0267 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0268 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0269 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0270 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0271 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0272 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0273 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0274 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0275 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0276 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0277 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0278 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0279 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0280 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0281 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0282 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0283 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0284 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0285 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0286 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0287 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0288 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0289 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0290 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0291 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0292 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0293 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0294 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0295 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0296 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0297 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0298 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0299 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0300 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0301 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0302 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0303 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0304 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0305 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0306 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0307 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0308 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0309 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0310 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0311 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0312 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0313 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0314 1/0 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
g0315 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0002 0/0 6486 78 7 25 27 6 13 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003 0/0 6486 51 33 11 2 2 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004 0/0 6486 20 14 3 0 0 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0007 0/0 6486 5 5 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0009 0/0 6486 4 4 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0010 0/0 6486 4 0 2 0 0 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0011 0/0 6486 3 1 1 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0012 0/0 6486 3 0 3 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0013 0/0 6486 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0014 0/0 6486 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0015 0/0 6486 2 0 0 1 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0016 0/0 6486 2 1 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0018 0/0 6486 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0019 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0020 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0021 0/0 6486 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0032 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0038 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0039 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0040 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001 1/1 6486 88 6 15 48 3 14 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0008 0/0 6486 5 0 0 5 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0028 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0041 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005 0/0 6486 12 0 1 9 1 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006 0/0 6486 8 5 0 0 0 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0004c0017 0/0 6486 2 0 2 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0005c0022 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0006c0023 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0007c0034 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0008c0030 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0009c0025 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0010c0029 0/0 6486 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0011c0031 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0012c0026 0/0 6486 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0013c0027 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0014c0024 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0015c0033 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0016c0035 0/0 6486 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0017c0036 0/0 6486 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0018c0037 0/0 6486 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0002t0001 0/0 9652 17 2 10 2 2 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0002 0/0 9637 4 0 0 4 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0003 0/0 9634 6 0 2 2 1 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0005 0/0 9638 4 0 0 4 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0006 0/0 9653 5 0 4 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0007 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0009 0/0 9635 8 0 2 3 0 3 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0010 0/0 9634 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0011 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0012 0/0 9635 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0014 0/0 9654 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0015 0/0 9636 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0016 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0018 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0019 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0021 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0030 0/0 9652 2 1 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0031 0/0 9653 2 0 0 0 2 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0033 0/0 9638 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0034 0/0 9652 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0037 0/0 9638 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0040 0/0 9653 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0041 0/0 9654 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0050 0/0 9636 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0051 0/0 9638 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0052 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0053 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0057 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0083 0/0 9635 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0084 0/0 9636 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0091 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0095 0/0 9634 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0100 0/0 9653 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0104 0/0 9653 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0105 0/0 9638 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0002t0109 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0001 0/0 9652 2 1 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0002 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0003 0/0 9634 2 1 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0004 0/0 9638 9 4 5 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0006 0/0 9653 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0007 0/0 9636 4 3 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0008 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0010 0/0 9634 4 3 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0011 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0012 0/0 9635 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0017 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0022 0/0 9636 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0023 0/0 9631 3 3 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0025 0/0 9635 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0035 0/0 9635 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0036 0/0 9655 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0044 0/0 9654 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0064 0/0 9635 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0066 0/0 9640 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0073 0/0 9635 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0074 0/0 9634 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0075 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0079 0/0 9637 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0081 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0082 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0090 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0099 0/0 9632 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0102 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0110 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0003t0112 0/0 9653 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0001 0/0 9652 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0004 0/0 9638 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0007 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0008 0/0 9637 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0010 0/0 9634 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0011 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0014 0/0 9654 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0015 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0016 0/0 9637 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0017 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0026 0/0 9639 2 0 1 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0028 0/0 9631 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0076 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0080 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0096 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0004t0103 0/0 9639 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0007t0007 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0007t0008 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0007t0012 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0007t0042 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0007t0070 0/0 9639 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0009t0004 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0009t0007 0/0 9636 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0009t0022 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0010t0001 0/0 9652 2 0 0 0 0 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0010t0004 0/0 9638 2 0 2 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0011t0001 0/0 9652 2 0 1 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0011t0006 0/0 9653 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0012t0001 0/0 9652 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0012t0006 0/0 9653 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0012t0014 0/0 9654 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0013t0024 0/0 9635 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0014t0008 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0014t0086 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0015t0001 0/0 9652 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0015t0027 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0016t0063 0/0 9634 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0016t0072 0/0 9652 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0018t0003 0/0 9634 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0018t0077 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0019t0020 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0020t0008 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0021t0006 0/0 9653 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0032t0018 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0038t0094 0/0 9640 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0039t0006 0/0 9653 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0001c0040t0005 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0001 0/0 9652 4 0 1 2 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0002 0/0 9637 20 1 3 13 1 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0003 0/0 9634 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0004 0/0 9638 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0005 0/0 9638 8 0 2 5 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0006 0/0 9653 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0007 0/0 9636 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0008 0/0 9637 4 1 2 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0009 0/0 9635 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0010 0/0 9634 2 0 0 0 2 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0011 0/0 9635 2 2 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0013 0/0 9638 3 0 0 3 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0015 0/0 9636 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0017 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0018 0/0 9637 2 0 1 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0019 0/0 9639 3 0 0 1 0 2 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0021 0/0 9638 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0024 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0027 0/0 9639 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0029 0/0 9634 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0032 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0038 0/0 9641 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0039 0/0 9653 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0046 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0047 0/0 9638 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0048 0/0 9640 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0049 0/0 9640 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0054 0/0 9652 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0055 0/0 9653 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0056 0/0 9654 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0058 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0059 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0061 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0062 0/0 9640 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0065 0/0 9639 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0069 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0085 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0087 0/1 9637 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0088 0/0 9638 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0089 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0092 0/0 9640 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0093 0/0 9640 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0098 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0106 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0107 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0001t0111 1/0 9636 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0008t0003 0/0 9634 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0008t0013 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0008t0017 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0008t0067 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0008t0097 0/0 9639 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0028t0020 0/0 9636 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0002c0041t0013 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005t0002 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005t0003 0/0 9634 5 0 1 3 1 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005t0014 0/0 9654 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005t0016 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005t0020 0/0 9636 2 0 0 2 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005t0032 0/0 9638 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0005t0043 0/0 9635 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0001 0/0 9652 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0005 0/0 9638 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0006 0/0 9653 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0012 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0014 0/0 9654 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0045 0/0 9655 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0101 0/0 9654 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0003c0006t0108 0/0 9638 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0004c0017t0001 0/0 9652 2 0 2 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0005c0022t0001 0/0 9652 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0006c0023t0012 0/0 9635 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0007c0034t0007 0/0 9636 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0008c0030t0071 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0009c0025t0004 0/0 9638 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0010c0029t0001 0/0 9652 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0011c0031t0029 0/0 9634 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0012c0026t0060 0/0 9637 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0013c0027t0011 0/0 9635 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0014c0024t0078 0/0 9654 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0015c0033t0002 0/0 9637 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0016c0035t0068 0/0 9654 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0017c0036t0002 0/0 9637 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802
a0018c0037t0005 0/0 9638 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 copy fasta chr19 50654255 50724802

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0002t0001g0091 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0093 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0096 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0118 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0119 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0139 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0168 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0173 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0177 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0181 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0189 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0195 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0201 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0203 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0209 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0250 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0001g0261 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0002g0108 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0002g0218 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0002g0258 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0002g0295 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0003g0056 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0003g0060 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0003g0143 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0003g0157 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0003g0196 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0003g0276 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0005g0116 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0005g0161 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0005g0257 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0005g0259 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0006g0109 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0006g0140 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0006g0236 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0006g0238 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0006g0277 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0007g0269 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0099 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0131 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0171 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0175 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0180 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0194 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0222 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0009g0223 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0010g0197 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0011g0081 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0012g0134 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0014g0198 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0015g0114 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0015g0138 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0016g0112 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0018g0127 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0019g0272 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0021g0021 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0030g0132 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0030g0246 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0031g0210 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0031g0227 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0033g0302 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0033g0306 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0034g0002 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0037g0006 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0040g0009 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0041g0016 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0050g0027 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0051g0026 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0052g0025 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0053g0030 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0057g0033 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0083g0229 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0084g0130 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0091g0115 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0095g0070 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0100g0300 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0104g0307 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0105g0304 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0002t0109g0312 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0001g0059 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0001g0061 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0002g0153 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0003g0253 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0003g0292 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0054 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0073 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0079 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0097 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0098 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0191 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0224 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0226 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0004g0254 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0006g0152 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0007g0053 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0007g0065 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0007g0074 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0007g0087 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0008g0231 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0010g0076 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0010g0158 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0010g0172 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0010g0284 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0011g0050 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0012g0051 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0012g0068 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0017g0086 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0022g0075 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0022g0243 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0023g0078 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0023g0239 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0023g0240 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0025g0008 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0025g0012 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0035g0003 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0036g0004 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0044g0010 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0064g0044 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0066g0043 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0073g0071 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0074g0124 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0075g0289 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0079g0142 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0081g0179 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0082g0083 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0090g0067 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0099g0308 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0102g0303 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0110g0313 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0003t0112g0315 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0001g0104 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0004g0182 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0007g0063 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0008g0049 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0008g0062 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0010g0058 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0011g0048 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0014g0147 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0015g0066 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0016g0064 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0016g0080 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0017g0245 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0026g0013 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0026g0018 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0028g0234 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0028g0274 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0076g0244 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0080g0082 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0096g0297 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0004t0103g0310 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0007t0007g0216 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0007t0008g0237 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0007t0012g0077 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0007t0042g0015 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0007t0070g0047 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0009t0004g0249 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0009t0007g0251 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0009t0007g0270 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0009t0022g0084 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0010t0001g0285 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0010t0001g0286 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0010t0004g0183 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0010t0004g0184 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0011t0001g0052 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0011t0001g0280 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0011t0006g0267 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0012t0001g0106 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0012t0006g0103 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0012t0014g0105 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0013t0024g0122 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0013t0024g0136 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0014t0008g0230 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0014t0086g0242 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0015t0001g0101 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0015t0027g0028 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0016t0063g0040 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0016t0072g0069 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0018t0003g0126 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0018t0077g0123 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0019t0020g0235 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0020t0008g0260 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0021t0006g0102 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0032t0018g0185 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0038t0094g0287 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0039t0006g0107 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0001c0040t0005g0206 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0001g0057 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0001g0111 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0001g0137 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0001g0193 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0094 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0113 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0125 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0145 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0151 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0155 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0159 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0176 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0178 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0187 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0188 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0211 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0268 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0271 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0273 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0275 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0290 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0291 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0293 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0002g0296 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0003g0148 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0003g0160 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0004g0135 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0090 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0110 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0128 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0144 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0169 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0192 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0213 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0005g0219 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0006g0141 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0007g0221 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0008g0055 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0008g0265 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0008g0266 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0008g0288 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0009g0146 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0009g0190 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0010g0263 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0010g0264 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0011g0232 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0011g0233 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0013g0121 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0013g0150 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0013g0256 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0015g0200 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0017g0133 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0018g0167 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0018g0262 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0019g0165 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0019g0225 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0019g0278 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0021g0017 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0021g0019 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0024g0247 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0027g0029 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0029g0162 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0032g0154 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0038g0005 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0039g0014 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0046g0011 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0047g0024 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0048g0022 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0049g0023 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0054g0031 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0055g0034 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0056g0032 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0058g0035 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0059g0036 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0061g0039 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0062g0037 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0065g0042 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0069g0045 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0085g0170 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0087g0095 0/1 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0088g0281 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0089g0217 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0092g0215 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0093g0156 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0098g0299 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0106g0311 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0107g0305 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0001t0111g0314 1/0 1 0 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0008t0003g0205 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0008t0013g0207 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0008t0017g0208 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0008t0067g0046 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0008t0097g0298 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0028t0020g0089 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0002c0041t0013g0255 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0002g0174 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0003g0100 0/0 1 0 0 0 1 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0003g0117 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0003g0164 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0003g0199 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0003g0241 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0014g0220 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0016g0166 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0020g0149 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0020g0214 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0032g0163 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0005t0043g0020 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0001g0248 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0005g0279 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0006g0283 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0012g0088 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0014g0212 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0045g0007 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0101g0301 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0003c0006t0108g0309 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0004c0017t0001g0001 0/0 2 0 2 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0005c0022t0001g0092 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0006c0023t0012g0085 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0007c0034t0007g0252 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0008c0030t0071g0072 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0009c0025t0004g0282 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0010c0029t0001g0204 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0011c0031t0029g0129 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0012c0026t0060g0038 0/0 1 1 0 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0013c0027t0011g0228 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0014c0024t0078g0202 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0015c0033t0002g0186 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0016c0035t0068g0041 0/0 1 0 1 0 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0017c0036t0002g0294 0/0 1 0 0 1 0 0 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
a0018c0037t0005g0120 0/0 1 0 0 0 0 1 SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0021 t0006 g0102 EUR GBR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00140 hp2 a0001 c0002 t0104 g0307 EUR GBR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00323 hp1 a0001 c0011 t0001 g0280 EUR FIN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00323 hp2 a0001 c0003 t0003 g0292 EUR FIN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00408 hp1 a0005 c0022 t0001 g0092 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00408 hp2 a0001 c0002 t0091 g0115 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00423 hp1 a0001 c0002 t0001 g0118 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00423 hp2 a0002 c0001 t0002 g0296 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00438 hp1 a0002 c0001 t0046 g0011 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00438 hp2 a0001 c0002 t0009 g0180 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00544 hp1 a0001 c0002 t0005 g0259 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00544 hp2 a0002 c0001 t0032 g0154 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00597 hp1 a0002 c0001 t0098 g0299 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00597 hp2 a0003 c0005 t0043 g0020 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00621 hp1 a0001 c0002 t0109 g0312 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00621 hp2 a0002 c0008 t0067 g0046 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00639 hp1 a0001 c0002 t0001 g0091 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00639 hp2 a0001 c0002 t0009 g0099 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00642 hp1 a0001 c0002 t0006 g0140 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00642 hp2 a0001 c0003 t0006 g0152 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00673 hp1 a0002 c0001 t0019 g0165 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00673 hp2 a0002 c0001 t0001 g0137 EAS CHS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00733 hp1 a0001 c0002 t0030 g0246 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00733 hp2 a0002 c0001 t0018 g0167 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00735 hp1 a0001 c0002 t0006 g0238 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00735 hp2 a0001 c0002 t0003 g0196 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00738 hp1 a0001 c0002 t0083 g0229 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00738 hp2 a0002 c0001 t0005 g0169 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00741 hp1 a0001 c0004 t0001 g0104 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG00741 hp2 a0001 c0003 t0036 g0004 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01069 hp1 a0001 c0002 t0001 g0119 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01069 hp2 a0001 c0010 t0004 g0184 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01070 hp1 a0003 c0005 t0003 g0241 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01070 hp2 a0004 c0017 t0001 g0001 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01071 hp1 a0004 c0017 t0001 g0001 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01071 hp2 a0001 c0010 t0004 g0183 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01074 hp1 a0001 c0002 t0095 g0070 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01074 hp2 a0013 c0027 t0011 g0228 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01081 hp1 a0001 c0003 t0004 g0097 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01081 hp2 a0001 c0002 t0001 g0195 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01099 hp1 a0001 c0003 t0044 g0010 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01099 hp2 a0001 c0002 t0009 g0222 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01106 hp1 a0001 c0003 t0001 g0061 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01106 hp2 a0001 c0002 t0010 g0197 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01109 hp1 a0001 c0039 t0006 g0107 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01109 hp2 a0001 c0003 t0064 g0044 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01167 hp1 a0002 c0001 t0002 g0125 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01167 hp2 a0001 c0011 t0001 g0052 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01168 hp1 a0001 c0002 t0001 g0168 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01168 hp2 a0001 c0002 t0040 g0009 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01169 hp1 a0002 c0001 t0005 g0128 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01169 hp2 a0001 c0002 t0001 g0096 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01175 hp1 a0001 c0002 t0001 g0189 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01175 hp2 a0001 c0012 t0001 g0106 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01192 hp1 a0001 c0002 t0041 g0016 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01192 hp2 a0001 c0004 t0026 g0018 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01243 hp1 a0001 c0003 t0004 g0098 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01243 hp2 a0001 c0003 t0073 g0071 AMR PUR SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01255 hp1 a0001 c0003 t0004 g0224 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01255 hp2 a0001 c0002 t0003 g0060 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01256 hp1 a0001 c0003 t0004 g0226 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01256 hp2 a0002 c0001 t0002 g0187 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01257 hp1 a0001 c0002 t0001 g0250 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01257 hp2 a0002 c0001 t0008 g0266 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01258 hp1 a0002 c0001 t0008 g0265 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01258 hp2 a0002 c0001 t0002 g0188 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01261 hp1 a0001 c0016 t0063 g0040 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01261 hp2 a0001 c0012 t0006 g0103 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01358 hp1 a0002 c0001 t0047 g0024 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01358 hp2 a0001 c0004 t0004 g0182 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01433 hp1 a0002 c0001 t0062 g0037 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01433 hp2 a0002 c0001 t0004 g0135 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01496 hp1 a0016 c0035 t0068 g0041 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01496 hp2 a0001 c0002 t0006 g0236 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01515 hp1 a0001 c0003 t0007 g0053 EUR IBS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01515 hp2 a0001 c0002 t0031 g0210 EUR IBS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01516 hp1 a0002 c0001 t0010 g0263 EUR IBS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01516 hp2 a0001 c0002 t0001 g0181 EUR IBS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01517 hp1 a0002 c0001 t0010 g0264 EUR IBS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01517 hp2 a0001 c0002 t0031 g0227 EUR IBS SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01884 hp1 a0001 c0016 t0072 g0069 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01884 hp2 a0001 c0009 t0007 g0251 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01891 hp1 a0001 c0004 t0010 g0058 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01891 hp2 a0001 c0018 t0003 g0126 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01952 hp1 a0001 c0003 t0004 g0054 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01952 hp2 a0002 c0001 t0055 g0034 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01975 hp1 a0002 c0001 t0088 g0281 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01975 hp2 a0001 c0002 t0001 g0173 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01981 hp1 a0001 c0002 t0001 g0139 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01981 hp2 a0002 c0001 t0007 g0221 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01993 hp1 a0001 c0002 t0006 g0109 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01993 hp2 a0001 c0002 t0012 g0134 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02004 hp1 a0015 c0033 t0002 g0186 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02004 hp2 a0002 c0001 t0001 g0193 AMR PEL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02027 hp1 a0001 c0002 t0016 g0112 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02027 hp2 a0002 c0001 t0002 g0159 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02040 hp1 a0003 c0005 t0003 g0164 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02040 hp2 a0002 c0001 t0009 g0190 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02055 hp1 a0012 c0026 t0060 g0038 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02055 hp2 a0003 c0006 t0101 g0301 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02056 hp1 a0002 c0001 t0107 g0305 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02056 hp2 a0002 c0001 t0048 g0022 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02071 hp1 a0002 c0001 t0021 g0017 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02071 hp2 a0017 c0036 t0002 g0294 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02074 hp1 a0002 c0001 t0009 g0146 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02074 hp2 a0001 c0002 t0009 g0175 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02129 hp1 a0001 c0002 t0002 g0258 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02129 hp2 a0001 c0002 t0015 g0138 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02132 hp1 a0003 c0005 t0002 g0174 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02132 hp2 a0002 c0001 t0003 g0148 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02135 hp1 a0001 c0002 t0021 g0021 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02135 hp2 a0001 c0002 t0052 g0025 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02145 hp1 a0001 c0003 t0066 g0043 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02145 hp2 a0001 c0003 t0007 g0074 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02165 hp1 a0001 c0003 t0002 g0153 EAS CDX SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02165 hp2 a0002 c0001 t0002 g0178 EAS CDX SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02257 hp1 a0001 c0002 t0001 g0177 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02257 hp2 a0006 c0023 t0012 g0085 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02258 hp1 a0001 c0003 t0102 g0303 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02258 hp2 a0001 c0003 t0082 g0083 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02280 hp1 a0001 c0003 t0075 g0289 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02280 hp2 a0001 c0002 t0001 g0093 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02451 hp1 a0003 c0006 t0006 g0283 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02451 hp2 a0001 c0004 t0011 g0048 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02523 hp1 a0001 c0002 t0009 g0171 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02523 hp2 a0002 c0008 t0003 g0205 EAS KHV SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02572 hp1 a0001 c0003 t0022 g0075 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02572 hp2 a0001 c0009 t0022 g0084 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02622 hp1 a0001 c0003 t0017 g0086 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02622 hp2 a0001 c0004 t0017 g0245 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02630 hp1 a0001 c0032 t0018 g0185 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02630 hp2 a0001 c0003 t0007 g0065 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02647 hp1 a0001 c0009 t0007 g0270 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02647 hp2 a0001 c0003 t0004 g0079 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02717 hp1 a0001 c0003 t0110 g0313 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02717 hp2 a0001 c0002 t0011 g0081 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02723 hp1 a0001 c0003 t0010 g0172 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02723 hp2 a0001 c0003 t0022 g0243 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02735 hp1 a0002 c0001 t0002 g0211 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02735 hp2 a0002 c0001 t0001 g0057 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02738 hp1 a0001 c0002 t0051 g0026 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02738 hp2 a0001 c0002 t0050 g0027 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02809 hp1 a0001 c0007 t0070 g0047 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02809 hp2 a0002 c0001 t0065 g0042 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02818 hp1 a0001 c0003 t0012 g0068 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02818 hp2 a0001 c0004 t0028 g0274 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02886 hp1 a0001 c0003 t0074 g0124 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02886 hp2 a0001 c0020 t0008 g0260 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02896 hp1 a0007 c0034 t0007 g0252 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02896 hp2 a0001 c0003 t0025 g0012 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02965 hp1 a0001 c0004 t0016 g0064 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02965 hp2 a0001 c0003 t0010 g0076 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02970 hp1 a0001 c0007 t0007 g0216 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02970 hp2 a0001 c0018 t0077 g0123 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02976 hp1 a0001 c0004 t0028 g0234 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02976 hp2 a0001 c0003 t0099 g0308 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03017 hp1 a0001 c0002 t0003 g0276 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03017 hp2 a0001 c0002 t0001 g0261 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03041 hp1 a0001 c0019 t0020 g0235 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03041 hp2 a0001 c0003 t0010 g0284 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03098 hp1 a0001 c0003 t0004 g0191 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03098 hp2 a0002 c0001 t0008 g0288 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03130 hp1 a0003 c0006 t0012 g0088 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03130 hp2 a0001 c0003 t0090 g0067 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03139 hp1 a0001 c0003 t0012 g0051 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03139 hp2 a0001 c0004 t0015 g0066 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03195 hp1 a0001 c0003 t0008 g0231 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03195 hp2 a0008 c0030 t0071 g0072 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03209 hp1 a0001 c0004 t0096 g0297 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03209 hp2 a0001 c0002 t0018 g0127 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03225 hp1 a0001 c0013 t0024 g0122 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03225 hp2 a0001 c0007 t0042 g0015 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03239 hp1 a0003 c0006 t0045 g0007 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03239 hp2 a0001 c0015 t0001 g0101 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03453 hp1 a0001 c0003 t0023 g0239 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03453 hp2 a0001 c0003 t0081 g0179 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03486 hp1 a0001 c0038 t0094 g0287 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03486 hp2 a0003 c0006 t0001 g0248 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03490 hp1 a0001 c0002 t0034 g0002 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03490 hp2 a0001 c0010 t0001 g0286 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03491 hp1 a0001 c0004 t0014 g0147 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03491 hp2 a0001 c0002 t0009 g0131 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03492 hp1 a0001 c0010 t0001 g0285 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03492 hp2 a0001 c0002 t0084 g0130 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03516 hp1 a0001 c0003 t0003 g0253 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03516 hp2 a0009 c0025 t0004 g0282 AFR ESN SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03540 hp1 a0001 c0002 t0030 g0132 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03540 hp2 a0001 c0003 t0004 g0254 AFR GWD SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03579 hp1 a0001 c0007 t0008 g0237 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03579 hp2 a0001 c0003 t0023 g0240 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03654 hp1 a0010 c0029 t0001 g0204 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03654 hp2 a0002 c0001 t0008 g0055 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03669 hp1 a0001 c0002 t0100 g0300 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03669 hp2 a0018 c0037 t0005 g0120 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03688 hp1 a0001 c0004 t0026 g0013 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03688 hp2 a0001 c0002 t0006 g0277 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03704 hp1 a0001 c0002 t0009 g0223 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03704 hp2 a0002 c0001 t0002 g0268 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03710 hp1 a0002 c0001 t0054 g0031 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03710 hp2 a0002 c0001 t0056 g0032 SAS PJL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03831 hp1 a0001 c0002 t0009 g0194 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03831 hp2 a0001 c0003 t0010 g0158 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03834 hp1 a0001 c0003 t0079 g0142 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03834 hp2 a0002 c0001 t0092 g0215 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03927 hp1 a0002 c0001 t0027 g0029 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03927 hp2 a0002 c0001 t0049 g0023 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03942 hp1 a0002 c0001 t0005 g0110 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03942 hp2 a0002 c0001 t0039 g0014 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04115 hp1 a0003 c0006 t0005 g0279 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04115 hp2 a0002 c0001 t0006 g0141 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04184 hp1 a0001 c0004 t0103 g0310 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04184 hp2 a0001 c0002 t0105 g0304 SAS BEB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04199 hp1 a0002 c0001 t0019 g0278 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04199 hp2 a0002 c0001 t0019 g0225 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04204 hp1 a0001 c0002 t0037 g0006 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04204 hp2 a0003 c0006 t0108 g0309 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04228 hp1 a0001 c0003 t0112 g0315 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG04228 hp2 a0003 c0005 t0014 g0220 SAS STU SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18522 hp1 a0001 c0007 t0012 g0077 AFR YRI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18522 hp2 a0001 c0003 t0023 g0078 AFR YRI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18612 hp1 a0002 c0001 t0002 g0113 EAS CHB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18612 hp2 a0003 c0005 t0003 g0199 EAS CHB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18906 hp1 a0002 c0001 t0011 g0232 AFR YRI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18906 hp2 a0001 c0004 t0076 g0244 AFR YRI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18950 hp1 a0002 c0001 t0093 g0156 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18950 hp2 a0002 c0001 t0002 g0290 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18951 hp1 a0002 c0001 t0005 g0144 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18951 hp2 a0001 c0002 t0005 g0257 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18960 hp1 a0002 c0001 t0003 g0160 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18960 hp2 a0001 c0002 t0002 g0295 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18962 hp1 a0001 c0002 t0003 g0157 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18962 hp2 a0002 c0001 t0005 g0192 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18964 hp1 a0001 c0002 t0057 g0033 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18964 hp2 a0001 c0003 t0035 g0003 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18966 hp1 a0002 c0008 t0017 g0208 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18966 hp2 a0002 c0001 t0018 g0262 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18969 hp1 a0002 c0001 t0015 g0200 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18969 hp2 a0003 c0005 t0020 g0214 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18970 hp1 a0002 c0001 t0002 g0273 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18970 hp2 a0003 c0005 t0016 g0166 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18971 hp1 a0002 c0001 t0002 g0275 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18971 hp2 a0002 c0001 t0002 g0151 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18974 hp1 a0003 c0005 t0032 g0163 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18974 hp2 a0014 c0024 t0078 g0202 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18978 hp1 a0002 c0001 t0058 g0035 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18978 hp2 a0002 c0001 t0005 g0213 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18979 hp1 a0001 c0002 t0003 g0143 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18979 hp2 a0002 c0001 t0029 g0162 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18983 hp1 a0003 c0005 t0003 g0117 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18983 hp2 a0002 c0001 t0002 g0291 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18986 hp1 a0001 c0002 t0002 g0218 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18986 hp2 a0002 c0001 t0002 g0145 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18997 hp1 a0002 c0001 t0021 g0019 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18997 hp2 a0001 c0002 t0033 g0306 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18998 hp1 a0001 c0002 t0005 g0116 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA18998 hp2 a0002 c0001 t0002 g0271 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19000 hp1 a0002 c0001 t0061 g0039 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19000 hp2 a0002 c0001 t0106 g0311 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19003 hp1 a0002 c0001 t0002 g0293 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19003 hp2 a0002 c0001 t0013 g0150 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19005 hp1 a0002 c0001 t0038 g0005 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19005 hp2 a0001 c0002 t0015 g0114 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19007 hp1 a0002 c0001 t0005 g0219 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19007 hp2 a0001 c0002 t0005 g0161 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19009 hp1 a0001 c0002 t0002 g0108 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19009 hp2 a0001 c0002 t0053 g0030 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19010 hp1 a0002 c0041 t0013 g0255 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19010 hp2 a0001 c0002 t0001 g0203 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19011 hp1 a0002 c0001 t0085 g0170 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19011 hp2 a0002 c0001 t0001 g0111 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19012 hp1 a0002 c0001 t0002 g0155 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19012 hp2 a0002 c0001 t0089 g0217 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19030 hp1 a0001 c0003 t0011 g0050 AFR LWK SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19030 hp2 a0001 c0011 t0006 g0267 AFR LWK SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19043 hp1 a0001 c0003 t0007 g0087 AFR LWK SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19043 hp2 a0001 c0004 t0007 g0063 AFR LWK SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19056 hp1 a0001 c0002 t0019 g0272 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19056 hp2 a0002 c0001 t0017 g0133 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19060 hp1 a0001 c0002 t0033 g0302 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19060 hp2 a0002 c0001 t0069 g0045 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19067 hp1 a0002 c0001 t0013 g0121 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19067 hp2 a0003 c0005 t0020 g0149 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19074 hp1 a0002 c0028 t0020 g0089 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19074 hp2 a0002 c0001 t0013 g0256 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19084 hp1 a0002 c0001 t0059 g0036 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19084 hp2 a0002 c0008 t0097 g0298 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19089 hp1 a0001 c0040 t0005 g0206 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19089 hp2 a0002 c0001 t0005 g0090 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19090 hp1 a0002 c0008 t0013 g0207 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19090 hp2 a0001 c0015 t0027 g0028 EAS JPT SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19240 hp1 a0001 c0003 t0004 g0073 AFR YRI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA19240 hp2 a0001 c0013 t0024 g0136 AFR YRI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20129 hp1 a0002 c0001 t0024 g0247 AFR ASW SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20129 hp2 a0001 c0002 t0007 g0269 AFR ASW SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20752 hp1 a0002 c0001 t0002 g0176 EUR TSI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20752 hp2 a0001 c0002 t0003 g0056 EUR TSI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20805 hp1 a0003 c0005 t0003 g0100 EUR TSI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20805 hp2 a0001 c0002 t0001 g0209 EUR TSI SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01123 hp1 a0001 c0002 t0001 g0201 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG01123 hp2 a0001 c0012 t0014 g0105 AMR CLM SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02109 hp1 a0001 c0004 t0008 g0049 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02109 hp2 a0001 c0003 t0025 g0008 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02486 hp1 a0011 c0031 t0029 g0129 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02486 hp2 a0001 c0004 t0008 g0062 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02559 hp1 a0001 c0002 t0014 g0198 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG02559 hp2 a0001 c0004 t0016 g0080 AFR ACB SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03471 hp1 a0001 c0014 t0086 g0242 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG03471 hp2 a0001 c0004 t0080 g0082 AFR MSL SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG06807 hp1 a0001 c0014 t0008 g0230 AFR USA SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
HG06807 hp2 a0002 c0001 t0002 g0094 AFR USA SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20300 hp1 a0001 c0009 t0004 g0249 AFR USA SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA20300 hp2 a0003 c0006 t0014 g0212 AFR USA SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA21309 hp1 a0001 c0003 t0001 g0059 AFR LWK SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
NA21309 hp2 a0002 c0001 t0011 g0233 AFR LWK SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
homoSapiens_chm13v2 hp1 a0002 c0001 t0087 g0095 REF REF SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802
homoSapiens_grch38 hp1 a0002 c0001 t0111 g0314 REF REF SHANK1_chr19_50654255_50724802 SHANK1 chr19 50654255 50724802

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr19:50662180 C
C
 A
A
 1 a0012
a0012
 1 HG02055.hp1
HG02055.hp1
 missense_variant MODERATE c.6271G>T
c.6271G>T
 p.Gly2091Cys
p.Gly2091Cys
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 6711/9636 6271/6486 2091/2161 chr19 50662180
chr19:50662486 C
C
 T
T
 1 a0013
a0013
 1 HG01074.hp2
HG01074.hp2
 missense_variant MODERATE c.5965G>A
c.5965G>A
 p.Glu1989Lys
p.Glu1989Lys
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 6405/9636 5965/6486 1989/2161 chr19 50662486
chr19:50662495 C
C
 T
T
 1 a0011
a0011
 1 HG02486.hp1
HG02486.hp1
 missense_variant MODERATE c.5956G>A
c.5956G>A
 p.Val1986Met
p.Val1986Met
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 6396/9636 5956/6486 1986/2161 chr19 50662495
chr19:50662518 G
G
 A
A
 2 a0010
a0016
a0010
a0016
 2 HG01496.hp1
HG03654.hp1
HG01496.hp1
HG03654.hp1
 missense_variant MODERATE c.5933C>T
c.5933C>T
 p.Thr1978Met
p.Thr1978Met
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 6373/9636 5933/6486 1978/2161 chr19 50662518
chr19:50667113 G
G
 T
T
 1 a0009
a0009
 1 HG03516.hp2
HG03516.hp2
 missense_variant MODERATE c.4847C>A
c.4847C>A
 p.Thr1616Asn
p.Thr1616Asn
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 5287/9636 4847/6486 1616/2161 chr19 50667113
chr19:50667374 G
G
 C
C
 1 a0004
a0004
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 missense_variant MODERATE c.4586C>G
c.4586C>G
 p.Pro1529Arg
p.Pro1529Arg
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 5026/9636 4586/6486 1529/2161 chr19 50667374
chr19:50667449 A
A
 G
G
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0005
a0006
a0007
a0008
a0009
a0010
a0011
a0012
a0014
a0016
a0018
 218 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(215): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 missense_variant MODERATE c.4511T>C
c.4511T>C
 p.Val1504Ala
p.Val1504Ala
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 4951/9636 4511/6486 1504/2161 chr19 50667449
chr19:50667971 G
G
 C
C
 1 a0008
a0008
 1 HG03195.hp2
HG03195.hp2
 missense_variant MODERATE c.3989C>G
c.3989C>G
 p.Thr1330Ser
p.Thr1330Ser
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 4429/9636 3989/6486 1330/2161 chr19 50667971
chr19:50668533 C
C
 G
G
 1 a0014
a0014
 1 NA18974.hp2
NA18974.hp2
 missense_variant MODERATE c.3427G>C
c.3427G>C
 p.Ala1143Pro
p.Ala1143Pro
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3867/9636 3427/6486 1143/2161 chr19 50668533
chr19:50668718 G
G
 A
A
 1 a0015
a0015
 1 HG02004.hp1
HG02004.hp1
 missense_variant MODERATE c.3242C>T
c.3242C>T
 p.Ala1081Val
p.Ala1081Val
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3682/9636 3242/6486 1081/2161 chr19 50668718
chr19:50668923 G
G
 A
A
 1 a0018
a0018
 1 HG03669.hp2
HG03669.hp2
 missense_variant MODERATE c.3037C>T
c.3037C>T
 p.Pro1013Ser
p.Pro1013Ser
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3477/9636 3037/6486 1013/2161 chr19 50668923
chr19:50669024 C
C
 A
A
 1 a0007
a0007
 1 HG02896.hp1
HG02896.hp1
 missense_variant MODERATE c.2936G>T
c.2936G>T
 p.Arg979Leu
p.Arg979Leu
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3376/9636 2936/6486 979/2161 chr19 50669024
chr19:50669148 C
C
 T
T
 1 a0006
a0006
 1 HG02257.hp2
HG02257.hp2
 missense_variant MODERATE c.2812G>A
c.2812G>A
 p.Val938Ile
p.Val938Ile
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3252/9636 2812/6486 938/2161 chr19 50669148
chr19:50669269 G
G
 C
C
 4 a0003
a0016
a0017
others(1): Show 
a0003
a0016
a0017
a0018
 23 HG00597.hp2
HG01070.hp1
HG01496.hp1
others(20): Show 
HG00597.hp2
HG01070.hp1
HG01496.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp2
HG02132.hp1
HG02451.hp1
HG03130.hp1
HG03239.hp1
HG03486.hp2
HG03669.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19067.hp2
NA20300.hp2
NA20805.hp1
 missense_variant MODERATE c.2691C>G
c.2691C>G
 p.Asp897Glu
p.Asp897Glu
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3131/9636 2691/6486 897/2161 chr19 50669269
chr19:50672071 C
C
 T
T
 1 a0005
a0005
 1 HG00408.hp1
HG00408.hp1
 missense_variant MODERATE c.2621G>A
c.2621G>A
 p.Arg874His
p.Arg874His
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/24 3061/9636 2621/6486 874/2161 chr19 50672071
chr19:50716961 G
G
 A
A
 1 a0001
a0001
 1 HG01074.hp1
HG01074.hp1
 splice_region_variant LOW c.-42C>T
c.-42C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 2/24 chr19 50716961

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr19:50662163 C
C
 T
T
 1 a0001c0009
a0001c0009
 4 HG01884.hp2
HG02572.hp2
HG02647.hp1
others(1): Show 
HG01884.hp2
HG02572.hp2
HG02647.hp1
NA20300.hp1
 synonymous_variant LOW c.6288G>A
c.6288G>A
 p.Gly2096Gly
p.Gly2096Gly
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 6728/9636 6288/6486 2096/2161 chr19 50662163
chr19:50662304 G
G
 A
A
 1 a0002c0028
a0002c0028
 1 NA19074.hp1
NA19074.hp1
 synonymous_variant LOW c.6147C>T
c.6147C>T
 p.Pro2049Pro
p.Pro2049Pro
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 6587/9636 6147/6486 2049/2161 chr19 50662304
chr19:50666827 C
C
 A
A
 1 a0001c0016
a0001c0016
 2 HG01261.hp1
HG01884.hp1
HG01261.hp1
HG01884.hp1
 synonymous_variant LOW c.5133G>T
c.5133G>T
 p.Gly1711Gly
p.Gly1711Gly
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 5573/9636 5133/6486 1711/2161 chr19 50666827
chr19:50667721 C
C
 T
T
 3 a0001c0011
a0003c0006
a0016c0035
a0001c0011
a0003c0006
a0016c0035
 12 HG00323.hp1
HG01167.hp2
HG01496.hp1
others(9): Show 
HG00323.hp1
HG01167.hp2
HG01496.hp1
HG02055.hp2
HG02451.hp1
HG03130.hp1
HG03239.hp1
HG03486.hp2
HG04115.hp1
HG04204.hp2
NA19030.hp2
NA20300.hp2
 synonymous_variant LOW c.4239G>A
c.4239G>A
 p.Pro1413Pro
p.Pro1413Pro
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 4679/9636 4239/6486 1413/2161 chr19 50667721
chr19:50667931 G
G
 A
A
 12 a0001c0002
a0001c0012
a0001c0015
others(9): Show 
a0001c0002
a0001c0012
a0001c0015
a0001c0020
a0001c0021
a0001c0039
a0001c0040
a0004c0017
a0005c0022
a0006c0023
a0010c0029
a0014c0024
 93 HG00140.hp1
HG00140.hp2
HG00408.hp1
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19060.hp1
NA19089.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
 synonymous_variant LOW c.4029C>T
c.4029C>T
 p.Thr1343Thr
p.Thr1343Thr
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 4469/9636 4029/6486 1343/2161 chr19 50667931
chr19:50668042 G
G
 A
A
 1 a0001c0007
a0001c0007
 5 HG02809.hp1
HG02970.hp1
HG03225.hp2
others(2): Show 
HG02809.hp1
HG02970.hp1
HG03225.hp2
HG03579.hp1
NA18522.hp1
 synonymous_variant LOW c.3918C>T
c.3918C>T
 p.Ser1306Ser
p.Ser1306Ser
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 4358/9636 3918/6486 1306/2161 chr19 50668042
chr19:50668555 C
C
 A
A
 1 a0001c0032
a0001c0032
 1 HG02630.hp1
HG02630.hp1
 synonymous_variant LOW c.3405G>T
c.3405G>T
 p.Pro1135Pro
p.Pro1135Pro
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3845/9636 3405/6486 1135/2161 chr19 50668555
chr19:50668600 G
G
 A
A
 9 a0001c0004
a0001c0007
a0001c0014
others(6): Show 
a0001c0004
a0001c0007
a0001c0014
a0001c0032
a0001c0038
a0003c0005
a0007c0034
a0011c0031
a0018c0037
 44 HG00597.hp2
HG00741.hp1
HG01070.hp1
others(41): Show 
HG00597.hp2
HG00741.hp1
HG01070.hp1
HG01192.hp2
HG01358.hp2
HG01891.hp1
HG02040.hp1
HG02109.hp1
HG02132.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19043.hp2
NA19067.hp2
NA20805.hp1
 synonymous_variant LOW c.3360C>T
c.3360C>T
 p.Pro1120Pro
p.Pro1120Pro
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/24 3800/9636 3360/6486 1120/2161 chr19 50668600
chr19:50688904 C
C
 G
G
 1 a0001c0015
a0001c0015
 2 HG03239.hp2
NA19090.hp2
HG03239.hp2
NA19090.hp2
 synonymous_variant LOW c.2112G>C
c.2112G>C
 p.Ser704Ser
p.Ser704Ser
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 17/24 2552/9636 2112/6486 704/2161 chr19 50688904
chr19:50697636 G
G
 A
A
 1 a0001c0018
a0001c0018
 2 HG01891.hp2
HG02970.hp2
HG01891.hp2
HG02970.hp2
 synonymous_variant LOW c.1890C>T
c.1890C>T
 p.Leu630Leu
p.Leu630Leu
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 14/24 2330/9636 1890/6486 630/2161 chr19 50697636
chr19:50702513 G
G
 T
T
 1 a0001c0039
a0001c0039
 1 HG01109.hp1
HG01109.hp1
 synonymous_variant LOW c.1701C>A
c.1701C>A
 p.Ala567Ala
p.Ala567Ala
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/24 2141/9636 1701/6486 567/2161 chr19 50702513
chr19:50703529 G
G
 A
A
 1 a0001c0038
a0001c0038
 1 HG03486.hp1
HG03486.hp1
 synonymous_variant LOW c.1524C>T
c.1524C>T
 p.Asp508Asp
p.Asp508Asp
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/24 1964/9636 1524/6486 508/2161 chr19 50703529
chr19:50703715 G
G
 T
T
 1 a0001c0021
a0001c0021
 1 HG00140.hp1
HG00140.hp1
 synonymous_variant LOW c.1338C>A
c.1338C>A
 p.Pro446Pro
p.Pro446Pro
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/24 1778/9636 1338/6486 446/2161 chr19 50703715
chr19:50704135 G
G
 T
T
 1 a0001c0014
a0001c0014
 2 HG03471.hp1
HG06807.hp1
HG03471.hp1
HG06807.hp1
 synonymous_variant LOW c.1207C>A
c.1207C>A
 p.Arg403Arg
p.Arg403Arg
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 10/24 1647/9636 1207/6486 403/2161 chr19 50704135
chr19:50704443 G
G
 A
A
 3 a0001c0010
a0001c0012
a0001c0039
a0001c0010
a0001c0012
a0001c0039
 8 HG01069.hp2
HG01071.hp2
HG01109.hp1
others(5): Show 
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp2
HG03490.hp2
HG03492.hp1
 synonymous_variant LOW c.1149C>T
c.1149C>T
 p.Pro383Pro
p.Pro383Pro
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 9/24 1589/9636 1149/6486 383/2161 chr19 50704443
chr19:50712112 C
C
 T
T
 2 a0001c0013
a0001c0020
a0001c0013
a0001c0020
 3 HG02886.hp2
HG03225.hp1
NA19240.hp2
HG02886.hp2
HG03225.hp1
NA19240.hp2
 splice_region_variant&synonymous_variant LOW c.795G>A
c.795G>A
 p.Ala265Ala
p.Ala265Ala
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 7/24 1235/9636 795/6486 265/2161 chr19 50712112
chr19:50713921 G
G
 A
A
 2 a0001c0040
a0002c0008
a0001c0040
a0002c0008
 6 HG00621.hp2
HG02523.hp2
NA18966.hp1
others(3): Show 
HG00621.hp2
HG02523.hp2
NA18966.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp1
 synonymous_variant LOW c.669C>T
c.669C>T
 p.Thr223Thr
p.Thr223Thr
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/24 1109/9636 669/6486 223/2161 chr19 50713921
chr19:50714240 C
C
 T
T
 1 a0001c0019
a0001c0019
 1 HG03041.hp1
HG03041.hp1
 synonymous_variant LOW c.582G>A
c.582G>A
 p.Lys194Lys
p.Lys194Lys
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 5/24 1022/9636 582/6486 194/2161 chr19 50714240
chr19:50716731 G
G
 A
A
 1 a0002c0041
a0002c0041
 1 NA19010.hp1
NA19010.hp1
 synonymous_variant LOW c.189C>T
c.189C>T
 p.Ser63Ser
p.Ser63Ser
 SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 2/24 629/9636 189/6486 63/2161 chr19 50716731

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr19:50659361 G
G
 A
A
 1 a0001c0003t0082
a0001c0003t0082
 1 HG02258.hp2
HG02258.hp2
 3_prime_UTR_variant MODIFIER c.*2604C>T
c.*2604C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 2604 chr19 50659361
chr19:50659499 G
G
 A
A
 156 a0001c0002t0001
a0001c0002t0003
a0001c0002t0006
others(153): Show 
a0001c0002t0001
a0001c0002t0003
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0012
a0001c0002t0014
a0001c0002t0015
a0001c0002t0016
a0001c0002t0018
a0001c0002t0030
a0001c0002t0031
a0001c0002t0034
a0001c0002t0037
a0001c0002t0040
a0001c0002t0041
a0001c0002t0050
a0001c0002t0051
a0001c0002t0057
a0001c0002t0083
a0001c0002t0084
a0001c0002t0091
a0001c0002t0095
a0001c0002t0100
a0001c0002t0104
a0001c0002t0105
a0001c0002t0109
a0001c0003t0001
a0001c0003t0003
a0001c0003t0004
a0001c0003t0006
a0001c0003t0007
a0001c0003t0008
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0017
a0001c0003t0022
a0001c0003t0023
a0001c0003t0025
a0001c0003t0035
a0001c0003t0036
a0001c0003t0044
a0001c0003t0064
a0001c0003t0066
a0001c0003t0073
a0001c0003t0074
a0001c0003t0075
a0001c0003t0079
a0001c0003t0081
a0001c0003t0082
a0001c0003t0090
a0001c0003t0099
a0001c0003t0102
a0001c0003t0110
a0001c0003t0112
a0001c0004t0001
a0001c0004t0004
a0001c0004t0007
a0001c0004t0008
a0001c0004t0010
a0001c0004t0011
a0001c0004t0014
a0001c0004t0015
a0001c0004t0016
a0001c0004t0017
a0001c0004t0026
a0001c0004t0028
a0001c0004t0076
a0001c0004t0080
a0001c0004t0096
a0001c0004t0103
a0001c0007t0007
a0001c0007t0008
a0001c0007t0012
a0001c0007t0042
a0001c0007t0070
a0001c0009t0004
a0001c0009t0007
a0001c0009t0022
a0001c0010t0001
a0001c0010t0004
a0001c0011t0001
a0001c0011t0006
a0001c0012t0001
a0001c0012t0006
a0001c0012t0014
a0001c0013t0024
a0001c0014t0008
a0001c0014t0086
a0001c0015t0001
a0001c0016t0063
a0001c0016t0072
a0001c0018t0003
a0001c0018t0077
a0001c0019t0020
a0001c0020t0008
a0001c0021t0006
a0001c0032t0018
a0001c0038t0094
a0001c0039t0006
a0002c0001t0001
a0002c0001t0003
a0002c0001t0004
a0002c0001t0006
a0002c0001t0007
a0002c0001t0008
a0002c0001t0009
a0002c0001t0010
a0002c0001t0011
a0002c0001t0013
a0002c0001t0015
a0002c0001t0017
a0002c0001t0018
a0002c0001t0024
a0002c0001t0029
a0002c0001t0047
a0002c0001t0054
a0002c0001t0055
a0002c0001t0056
a0002c0001t0058
a0002c0001t0065
a0002c0001t0089
a0002c0001t0093
a0002c0008t0003
a0002c0008t0013
a0002c0008t0017
a0002c0008t0067
a0002c0008t0097
a0002c0028t0020
a0002c0041t0013
a0003c0005t0003
a0003c0005t0014
a0003c0005t0016
a0003c0005t0020
a0003c0005t0043
a0003c0006t0001
a0003c0006t0006
a0003c0006t0012
a0003c0006t0014
a0003c0006t0045
a0003c0006t0101
a0004c0017t0001
a0005c0022t0001
a0006c0023t0012
a0007c0034t0007
a0008c0030t0071
a0009c0025t0004
a0010c0029t0001
a0011c0031t0029
a0012c0026t0060
a0013c0027t0011
a0014c0024t0078
a0016c0035t0068
 240 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(237): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA19003.hp2
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2466C>T
c.*2466C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 2466 chr19 50659499
chr19:50659660 T
T
 C
C
 1 a0001c0002t0083
a0001c0002t0083
 1 HG00738.hp1
HG00738.hp1
 3_prime_UTR_variant MODIFIER c.*2305A>G
c.*2305A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 2305 chr19 50659660
chr19:50659780 C
C
 A
A
 1 a0002c0001t0088
a0002c0001t0088
 1 HG01975.hp1
HG01975.hp1
 3_prime_UTR_variant MODIFIER c.*2185G>T
c.*2185G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 2185 chr19 50659780
chr19:50659853 A
A
 C
C
 1 a0002c0001t0087
a0002c0001t0087
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2112T>G
c.*2112T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 2112 chr19 50659853
chr19:50659912 C
C
 A
A
 1 a0001c0018t0077
a0001c0018t0077
 1 HG02970.hp2
HG02970.hp2
 3_prime_UTR_variant MODIFIER c.*2053G>T
c.*2053G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 2053 chr19 50659912
chr19:50660049 G
G
 T
T
 55 a0001c0002t0001
a0001c0002t0006
a0001c0002t0014
others(52): Show 
a0001c0002t0001
a0001c0002t0006
a0001c0002t0014
a0001c0002t0018
a0001c0002t0030
a0001c0002t0031
a0001c0002t0034
a0001c0002t0040
a0001c0002t0041
a0001c0002t0100
a0001c0002t0104
a0001c0003t0001
a0001c0003t0006
a0001c0003t0036
a0001c0003t0044
a0001c0003t0112
a0001c0004t0001
a0001c0004t0014
a0001c0004t0026
a0001c0004t0103
a0001c0010t0001
a0001c0011t0001
a0001c0011t0006
a0001c0012t0001
a0001c0012t0006
a0001c0012t0014
a0001c0013t0024
a0001c0015t0001
a0001c0016t0072
a0001c0021t0006
a0001c0032t0018
a0001c0039t0006
a0002c0001t0001
a0002c0001t0006
a0002c0001t0013
a0002c0001t0018
a0002c0001t0024
a0002c0001t0039
a0002c0001t0054
a0002c0001t0055
a0002c0001t0056
a0002c0008t0013
a0002c0008t0067
a0002c0041t0013
a0003c0005t0014
a0003c0006t0001
a0003c0006t0006
a0003c0006t0014
a0003c0006t0045
a0003c0006t0101
a0004c0017t0001
a0005c0022t0001
a0010c0029t0001
a0014c0024t0078
a0016c0035t0068
 89 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02735.hp2
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
NA18966.hp2
NA18974.hp2
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19067.hp1
NA19074.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1916C>A
c.*1916C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1916 chr19 50660049
chr19:50660089 G
G
 A
A
 1 a0001c0003t0074
a0001c0003t0074
 1 HG02886.hp1
HG02886.hp1
 3_prime_UTR_variant MODIFIER c.*1876C>T
c.*1876C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1876 chr19 50660089
chr19:50660118 TG
TG
 T
T
 97 a0001c0002t0003
a0001c0002t0007
a0001c0002t0009
others(94): Show 
a0001c0002t0003
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0012
a0001c0002t0015
a0001c0002t0016
a0001c0002t0037
a0001c0002t0050
a0001c0002t0051
a0001c0002t0057
a0001c0002t0083
a0001c0002t0084
a0001c0002t0091
a0001c0002t0095
a0001c0003t0003
a0001c0003t0004
a0001c0003t0007
a0001c0003t0008
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0017
a0001c0003t0022
a0001c0003t0023
a0001c0003t0025
a0001c0003t0035
a0001c0003t0064
a0001c0003t0074
a0001c0003t0079
a0001c0003t0081
a0001c0003t0082
a0001c0003t0090
a0001c0003t0099
a0001c0003t0102
a0001c0003t0110
a0001c0004t0004
a0001c0004t0007
a0001c0004t0008
a0001c0004t0010
a0001c0004t0011
a0001c0004t0015
a0001c0004t0016
a0001c0004t0017
a0001c0004t0028
a0001c0004t0076
a0001c0004t0080
a0001c0004t0096
a0001c0007t0007
a0001c0007t0008
a0001c0007t0012
a0001c0007t0042
a0001c0007t0070
a0001c0009t0004
a0001c0009t0007
a0001c0009t0022
a0001c0010t0004
a0001c0014t0008
a0001c0014t0086
a0001c0016t0063
a0001c0018t0003
a0001c0018t0077
a0001c0019t0020
a0001c0020t0008
a0001c0038t0094
a0002c0001t0003
a0002c0001t0004
a0002c0001t0007
a0002c0001t0008
a0002c0001t0009
a0002c0001t0010
a0002c0001t0011
a0002c0001t0015
a0002c0001t0017
a0002c0001t0029
a0002c0001t0047
a0002c0001t0058
a0002c0001t0065
a0002c0001t0089
a0002c0001t0093
a0002c0008t0003
a0002c0008t0017
a0002c0008t0097
a0002c0028t0020
a0003c0005t0003
a0003c0005t0016
a0003c0005t0020
a0003c0005t0043
a0003c0006t0012
a0006c0023t0012
a0007c0034t0007
a0008c0030t0071
a0009c0025t0004
a0011c0031t0029
a0012c0026t0060
a0013c0027t0011
 147 HG00323.hp2
HG00408.hp2
HG00438.hp2
others(144): Show 
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00597.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01981.hp2
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA19005.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19067.hp2
NA19074.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1846delC
c.*1846delC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1846 chr19 50660118
chr19:50660182 G
G
 A
A
 1 a0001c0018t0077
a0001c0018t0077
 1 HG02970.hp2
HG02970.hp2
 3_prime_UTR_variant MODIFIER c.*1783C>T
c.*1783C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1783 chr19 50660182
chr19:50660188 G
G
 T
T
 1 a0001c0003t0073
a0001c0003t0073
 1 HG01243.hp2
HG01243.hp2
 3_prime_UTR_variant MODIFIER c.*1777C>A
c.*1777C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1777 chr19 50660188
chr19:50660190 G
G
 A
A
 3 a0001c0003t0102
a0001c0004t0080
a0001c0038t0094
a0001c0003t0102
a0001c0004t0080
a0001c0038t0094
 3 HG02258.hp1
HG03471.hp2
HG03486.hp1
HG02258.hp1
HG03471.hp2
HG03486.hp1
 3_prime_UTR_variant MODIFIER c.*1775C>T
c.*1775C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1775 chr19 50660190
chr19:50660213 C
C
 CGGGAATA
others(10): Show 
CGGGAATAAGCGGAGAGA
 44 a0001c0002t0001
a0001c0002t0006
a0001c0002t0014
others(41): Show 
a0001c0002t0001
a0001c0002t0006
a0001c0002t0014
a0001c0002t0030
a0001c0002t0031
a0001c0002t0034
a0001c0002t0040
a0001c0002t0041
a0001c0002t0100
a0001c0002t0104
a0001c0003t0001
a0001c0003t0006
a0001c0003t0036
a0001c0003t0044
a0001c0003t0112
a0001c0004t0001
a0001c0004t0014
a0001c0010t0001
a0001c0011t0001
a0001c0011t0006
a0001c0012t0001
a0001c0012t0006
a0001c0012t0014
a0001c0015t0001
a0001c0016t0072
a0001c0021t0006
a0001c0039t0006
a0002c0001t0001
a0002c0001t0006
a0002c0001t0039
a0002c0001t0054
a0002c0001t0055
a0002c0001t0056
a0003c0005t0014
a0003c0006t0001
a0003c0006t0006
a0003c0006t0014
a0003c0006t0045
a0003c0006t0101
a0004c0017t0001
a0005c0022t0001
a0010c0029t0001
a0014c0024t0078
a0016c0035t0068
 73 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(70): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp2
HG02055.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02735.hp2
HG03017.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG04228.hp2
NA18974.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1735_*1751dupTCTC
others(13): Show 
c.*1735_*1751dupTCTCTCCGCTTATTCCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1751 chr19 50660213
chr19:50660367 A
A
 T
T
 22 a0001c0002t0015
a0001c0002t0016
a0001c0002t0057
others(19): Show 
a0001c0002t0015
a0001c0002t0016
a0001c0002t0057
a0001c0002t0091
a0001c0003t0017
a0001c0003t0082
a0001c0004t0015
a0001c0004t0016
a0001c0004t0017
a0001c0004t0076
a0001c0004t0096
a0001c0014t0086
a0002c0001t0015
a0002c0001t0017
a0002c0001t0029
a0002c0001t0058
a0002c0001t0089
a0002c0001t0093
a0002c0008t0017
a0002c0008t0097
a0003c0005t0016
a0011c0031t0029
 24 HG00408.hp2
HG02027.hp1
HG02129.hp2
others(21): Show 
HG00408.hp2
HG02027.hp1
HG02129.hp2
HG02258.hp2
HG02486.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
NA18906.hp2
NA18950.hp1
NA18964.hp1
NA18966.hp1
NA18969.hp1
NA18970.hp2
NA18978.hp1
NA18979.hp2
NA19005.hp2
NA19012.hp2
NA19056.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*1598T>A
c.*1598T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1598 chr19 50660367
chr19:50660393 G
G
 A
A
 2 a0001c0003t0023
a0001c0003t0099
a0001c0003t0023
a0001c0003t0099
 4 HG02976.hp2
HG03453.hp1
HG03579.hp2
others(1): Show 
HG02976.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
 3_prime_UTR_variant MODIFIER c.*1572C>T
c.*1572C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1572 chr19 50660393
chr19:50660453 G
G
 T
T
 1 a0001c0003t0079
a0001c0003t0079
 1 HG03834.hp1
HG03834.hp1
 3_prime_UTR_variant MODIFIER c.*1512C>A
c.*1512C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1512 chr19 50660453
chr19:50660500 G
G
 A
A
 1 a0001c0003t0081
a0001c0003t0081
 1 HG03453.hp2
HG03453.hp2
 3_prime_UTR_variant MODIFIER c.*1465C>T
c.*1465C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1465 chr19 50660500
chr19:50660527 AAAAT
AAAAT
 A
A
 3 a0001c0003t0023
a0001c0003t0099
a0001c0004t0028
a0001c0003t0023
a0001c0003t0099
a0001c0004t0028
 6 HG02818.hp2
HG02976.hp1
HG02976.hp2
others(3): Show 
HG02818.hp2
HG02976.hp1
HG02976.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
 3_prime_UTR_variant MODIFIER c.*1434_*1437delATTT
c.*1434_*1437delATTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1434 chr19 50660527
chr19:50660577 G
G
 A
A
 29 a0001c0002t0003
a0001c0002t0009
a0001c0002t0012
others(26): Show 
a0001c0002t0003
a0001c0002t0009
a0001c0002t0012
a0001c0002t0037
a0001c0002t0050
a0001c0002t0051
a0001c0002t0083
a0001c0002t0084
a0001c0002t0095
a0001c0002t0105
a0001c0003t0003
a0001c0003t0012
a0001c0003t0023
a0001c0003t0035
a0001c0003t0099
a0001c0004t0028
a0001c0007t0012
a0001c0016t0063
a0001c0018t0003
a0001c0019t0020
a0002c0001t0003
a0002c0001t0009
a0002c0008t0003
a0002c0028t0020
a0003c0005t0003
a0003c0005t0020
a0003c0005t0043
a0003c0006t0012
a0006c0023t0012
 53 HG00323.hp2
HG00438.hp2
HG00597.hp2
others(50): Show 
HG00323.hp2
HG00438.hp2
HG00597.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp1
HG01074.hp1
HG01099.hp2
HG01255.hp2
HG01261.hp1
HG01891.hp2
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02132.hp2
HG02257.hp2
HG02523.hp1
HG02523.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03453.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03579.hp2
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18960.hp1
NA18962.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp1
NA18983.hp1
NA19067.hp2
NA19074.hp1
NA20752.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*1388C>T
c.*1388C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1388 chr19 50660577
chr19:50660651 C
C
 T
T
 9 a0001c0002t0018
a0001c0004t0026
a0001c0004t0103
others(6): Show 
a0001c0002t0018
a0001c0004t0026
a0001c0004t0103
a0001c0032t0018
a0002c0001t0013
a0002c0001t0018
a0002c0008t0013
a0002c0008t0067
a0002c0041t0013
 13 HG00621.hp2
HG00733.hp2
HG01192.hp2
others(10): Show 
HG00621.hp2
HG00733.hp2
HG01192.hp2
HG02630.hp1
HG03209.hp2
HG03688.hp1
HG04184.hp1
NA18966.hp2
NA19003.hp2
NA19010.hp1
NA19067.hp1
NA19074.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*1314G>A
c.*1314G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1314 chr19 50660651
chr19:50660674 A
A
 T
T
 1 a0001c0003t0073
a0001c0003t0073
 1 HG01243.hp2
HG01243.hp2
 3_prime_UTR_variant MODIFIER c.*1291T>A
c.*1291T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1291 chr19 50660674
chr19:50660722 T
T
 TG
TG
 48 a0001c0002t0005
a0001c0002t0006
a0001c0002t0009
others(45): Show 
a0001c0002t0005
a0001c0002t0006
a0001c0002t0009
a0001c0002t0011
a0001c0002t0012
a0001c0002t0031
a0001c0002t0041
a0001c0002t0083
a0001c0003t0006
a0001c0003t0011
a0001c0003t0012
a0001c0003t0036
a0001c0003t0044
a0001c0004t0011
a0001c0004t0076
a0001c0007t0012
a0001c0011t0006
a0001c0012t0006
a0001c0015t0027
a0001c0018t0077
a0001c0021t0006
a0001c0039t0006
a0001c0040t0005
a0002c0001t0005
a0002c0001t0006
a0002c0001t0009
a0002c0001t0011
a0002c0001t0027
a0002c0001t0032
a0002c0001t0046
a0002c0001t0048
a0002c0001t0049
a0002c0001t0056
a0002c0001t0062
a0002c0001t0088
a0002c0001t0098
a0002c0001t0106
a0002c0001t0107
a0003c0005t0032
a0003c0006t0005
a0003c0006t0006
a0003c0006t0012
a0003c0006t0101
a0006c0023t0012
a0012c0026t0060
a0013c0027t0011
a0016c0035t0068
a0018c0037t0005
 73 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(70): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01169.hp1
HG01192.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01975.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02717.hp2
HG02818.hp1
HG02970.hp2
HG03130.hp1
HG03139.hp1
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18962.hp2
NA18974.hp1
NA18978.hp2
NA18998.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1242dupC
c.*1242dupC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1242 chr19 50660722
chr19:50660722 T
T
 TGG
TGG
 30 a0001c0002t0007
a0001c0002t0015
a0001c0002t0018
others(27): Show 
a0001c0002t0007
a0001c0002t0015
a0001c0002t0018
a0001c0002t0019
a0001c0002t0037
a0001c0002t0051
a0001c0002t0057
a0001c0002t0084
a0001c0002t0105
a0001c0003t0007
a0001c0003t0022
a0001c0003t0090
a0001c0004t0007
a0001c0004t0015
a0001c0004t0096
a0001c0007t0007
a0001c0007t0042
a0001c0009t0007
a0001c0009t0022
a0001c0032t0018
a0002c0001t0007
a0002c0001t0015
a0002c0001t0018
a0002c0001t0019
a0002c0001t0038
a0002c0001t0047
a0002c0001t0089
a0002c0008t0067
a0007c0034t0007
a0014c0024t0078
 39 HG00621.hp2
HG00673.hp1
HG00733.hp2
others(36): Show 
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp2
HG01981.hp2
HG02129.hp2
HG02145.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp1
HG02896.hp1
HG02970.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03492.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18964.hp1
NA18966.hp2
NA18969.hp1
NA18974.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*1241_*1242dupCC
c.*1241_*1242dupCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1242 chr19 50660722
chr19:50660722 T
T
 TGGG
TGGG
 23 a0001c0002t0016
a0001c0002t0091
a0001c0003t0008
others(20): Show 
a0001c0002t0016
a0001c0002t0091
a0001c0003t0008
a0001c0003t0079
a0001c0003t0081
a0001c0003t0102
a0001c0004t0008
a0001c0004t0016
a0001c0004t0026
a0001c0004t0080
a0001c0004t0103
a0001c0007t0008
a0001c0007t0070
a0001c0014t0008
a0001c0020t0008
a0002c0001t0008
a0002c0001t0013
a0002c0001t0058
a0002c0001t0092
a0002c0008t0013
a0002c0041t0013
a0003c0005t0016
a0008c0030t0071
 31 HG00408.hp2
HG01192.hp2
HG01257.hp2
others(28): Show 
HG00408.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG02027.hp1
HG02109.hp1
HG02258.hp1
HG02486.hp2
HG02559.hp2
HG02809.hp1
HG02886.hp2
HG02965.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG06807.hp1
NA18970.hp2
NA18978.hp1
NA19003.hp2
NA19010.hp1
NA19067.hp1
NA19074.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*1240_*1242dupCCC
c.*1240_*1242dupCCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1242 chr19 50660722
chr19:50660722 T
T
 TGGGG
TGGGG
 17 a0001c0003t0004
a0001c0003t0017
a0001c0003t0066
others(14): Show 
a0001c0003t0004
a0001c0003t0017
a0001c0003t0066
a0001c0003t0082
a0001c0003t0110
a0001c0004t0004
a0001c0004t0017
a0001c0009t0004
a0001c0010t0004
a0001c0038t0094
a0002c0001t0004
a0002c0001t0017
a0002c0001t0065
a0002c0001t0093
a0002c0008t0017
a0002c0008t0097
a0009c0025t0004
 26 HG01069.hp2
HG01071.hp2
HG01081.hp1
others(23): Show 
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01358.hp2
HG01433.hp2
HG01952.hp1
HG02145.hp1
HG02258.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp2
HG03098.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp2
NA18950.hp1
NA18966.hp1
NA19056.hp2
NA19084.hp2
NA19240.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*1239_*1242dupCCCC
c.*1239_*1242dupCCCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1242 chr19 50660722
chr19:50660728 G
G
 GT
GT
 3 a0001c0003t0023
a0001c0003t0099
a0001c0004t0028
a0001c0003t0023
a0001c0003t0099
a0001c0004t0028
 6 HG02818.hp2
HG02976.hp1
HG02976.hp2
others(3): Show 
HG02818.hp2
HG02976.hp1
HG02976.hp2
HG03453.hp1
HG03579.hp2
NA18522.hp2
 3_prime_UTR_variant MODIFIER c.*1236_*1237insA
c.*1236_*1237insA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1236 chr19 50660728
chr19:50660765 T
T
 A
A
 26 a0001c0002t0003
a0001c0002t0009
a0001c0002t0012
others(23): Show 
a0001c0002t0003
a0001c0002t0009
a0001c0002t0012
a0001c0002t0037
a0001c0002t0050
a0001c0002t0051
a0001c0002t0083
a0001c0002t0084
a0001c0002t0095
a0001c0002t0105
a0001c0003t0003
a0001c0003t0012
a0001c0003t0035
a0001c0007t0012
a0001c0016t0063
a0001c0018t0003
a0001c0019t0020
a0002c0001t0003
a0002c0001t0009
a0002c0008t0003
a0002c0028t0020
a0003c0005t0003
a0003c0005t0020
a0003c0005t0043
a0003c0006t0012
a0006c0023t0012
 47 HG00323.hp2
HG00438.hp2
HG00597.hp2
others(44): Show 
HG00323.hp2
HG00438.hp2
HG00597.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp1
HG01074.hp1
HG01099.hp2
HG01255.hp2
HG01261.hp1
HG01891.hp2
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02132.hp2
HG02257.hp2
HG02523.hp1
HG02523.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp2
NA18960.hp1
NA18962.hp1
NA18964.hp2
NA18969.hp2
NA18979.hp1
NA18983.hp1
NA19067.hp2
NA19074.hp1
NA20752.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*1200A>T
c.*1200A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 1200 chr19 50660765
chr19:50661154 G
G
 A
A
 9 a0001c0002t0018
a0001c0004t0026
a0001c0004t0103
others(6): Show 
a0001c0002t0018
a0001c0004t0026
a0001c0004t0103
a0001c0032t0018
a0002c0001t0013
a0002c0001t0018
a0002c0008t0013
a0002c0008t0067
a0002c0041t0013
 13 HG00621.hp2
HG00733.hp2
HG01192.hp2
others(10): Show 
HG00621.hp2
HG00733.hp2
HG01192.hp2
HG02630.hp1
HG03209.hp2
HG03688.hp1
HG04184.hp1
NA18966.hp2
NA19003.hp2
NA19010.hp1
NA19067.hp1
NA19074.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*811C>T
c.*811C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 811 chr19 50661154
chr19:50661203 C
C
 T
T
 5 a0002c0001t0032
a0002c0001t0048
a0002c0001t0085
others(2): Show 
a0002c0001t0032
a0002c0001t0048
a0002c0001t0085
a0002c0001t0106
a0003c0005t0032
 5 HG00544.hp2
HG02056.hp2
NA18974.hp1
others(2): Show 
HG00544.hp2
HG02056.hp2
NA18974.hp1
NA19000.hp2
NA19011.hp1
 3_prime_UTR_variant MODIFIER c.*762G>A
c.*762G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 762 chr19 50661203
chr19:50661546 G
G
 A
A
 21 a0001c0002t0003
a0001c0002t0009
a0001c0002t0030
others(18): Show 
a0001c0002t0003
a0001c0002t0009
a0001c0002t0030
a0001c0002t0031
a0001c0002t0037
a0001c0002t0050
a0001c0002t0051
a0001c0002t0083
a0001c0002t0084
a0001c0002t0095
a0001c0002t0104
a0001c0002t0105
a0001c0003t0003
a0001c0003t0035
a0001c0016t0063
a0001c0018t0003
a0002c0001t0003
a0002c0001t0009
a0002c0008t0003
a0003c0005t0003
a0003c0005t0043
 42 HG00140.hp2
HG00323.hp2
HG00438.hp2
others(39): Show 
HG00140.hp2
HG00323.hp2
HG00438.hp2
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp1
HG01074.hp1
HG01099.hp2
HG01255.hp2
HG01261.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02132.hp2
HG02523.hp1
HG02523.hp2
HG02738.hp1
HG02738.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA18612.hp2
NA18960.hp1
NA18962.hp1
NA18964.hp2
NA18979.hp1
NA18983.hp1
NA20752.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*419C>T
c.*419C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 419 chr19 50661546
chr19:50661682 T
T
 C
C
 1 a0003c0006t0108
a0003c0006t0108
 1 HG04204.hp2
HG04204.hp2
 3_prime_UTR_variant MODIFIER c.*283A>G
c.*283A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 283 chr19 50661682
chr19:50661724 C
C
 A
A
 2 a0001c0003t0044
a0016c0035t0068
a0001c0003t0044
a0016c0035t0068
 2 HG01099.hp1
HG01496.hp1
HG01099.hp1
HG01496.hp1
 3_prime_UTR_variant MODIFIER c.*241G>T
c.*241G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 241 chr19 50661724
chr19:50661739 TCA
TCA
 T
T
 141 a0001c0002t0001
a0001c0002t0003
a0001c0002t0006
others(138): Show 
a0001c0002t0001
a0001c0002t0003
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0012
a0001c0002t0015
a0001c0002t0016
a0001c0002t0018
a0001c0002t0030
a0001c0002t0031
a0001c0002t0034
a0001c0002t0037
a0001c0002t0040
a0001c0002t0041
a0001c0002t0050
a0001c0002t0051
a0001c0002t0057
a0001c0002t0083
a0001c0002t0084
a0001c0002t0095
a0001c0002t0100
a0001c0002t0104
a0001c0002t0105
a0001c0003t0001
a0001c0003t0003
a0001c0003t0004
a0001c0003t0006
a0001c0003t0007
a0001c0003t0008
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0017
a0001c0003t0022
a0001c0003t0023
a0001c0003t0025
a0001c0003t0035
a0001c0003t0036
a0001c0003t0044
a0001c0003t0064
a0001c0003t0066
a0001c0003t0073
a0001c0003t0074
a0001c0003t0075
a0001c0003t0079
a0001c0003t0081
a0001c0003t0082
a0001c0003t0099
a0001c0003t0102
a0001c0003t0110
a0001c0003t0112
a0001c0004t0001
a0001c0004t0004
a0001c0004t0007
a0001c0004t0008
a0001c0004t0010
a0001c0004t0011
a0001c0004t0015
a0001c0004t0016
a0001c0004t0017
a0001c0004t0026
a0001c0004t0028
a0001c0004t0076
a0001c0004t0080
a0001c0004t0096
a0001c0004t0103
a0001c0007t0007
a0001c0007t0008
a0001c0007t0012
a0001c0007t0042
a0001c0007t0070
a0001c0009t0004
a0001c0009t0007
a0001c0009t0022
a0001c0010t0001
a0001c0010t0004
a0001c0011t0001
a0001c0011t0006
a0001c0012t0001
a0001c0012t0006
a0001c0013t0024
a0001c0014t0008
a0001c0015t0001
a0001c0016t0063
a0001c0016t0072
a0001c0018t0003
a0001c0018t0077
a0001c0020t0008
a0001c0021t0006
a0001c0032t0018
a0001c0039t0006
a0002c0001t0001
a0002c0001t0003
a0002c0001t0004
a0002c0001t0006
a0002c0001t0007
a0002c0001t0008
a0002c0001t0009
a0002c0001t0010
a0002c0001t0011
a0002c0001t0013
a0002c0001t0015
a0002c0001t0017
a0002c0001t0018
a0002c0001t0024
a0002c0001t0029
a0002c0001t0039
a0002c0001t0047
a0002c0001t0054
a0002c0001t0055
a0002c0001t0056
a0002c0001t0058
a0002c0001t0065
a0002c0008t0003
a0002c0008t0013
a0002c0008t0017
a0002c0008t0067
a0002c0008t0097
a0002c0041t0013
a0003c0005t0003
a0003c0005t0016
a0003c0005t0043
a0003c0006t0001
a0003c0006t0006
a0003c0006t0012
a0003c0006t0101
a0004c0017t0001
a0005c0022t0001
a0006c0023t0012
a0007c0034t0007
a0008c0030t0071
a0009c0025t0004
a0010c0029t0001
a0011c0031t0029
a0012c0026t0060
a0013c0027t0011
a0014c0024t0078
a0016c0035t0068
 224 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(221): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp1
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18970.hp2
NA18974.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA19003.hp2
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*224_*225delTG
c.*224_*225delTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 224 chr19 50661739
chr19:50661771 C
C
 T
T
 3 a0001c0003t0022
a0001c0009t0022
a0001c0016t0072
a0001c0003t0022
a0001c0009t0022
a0001c0016t0072
 4 HG01884.hp1
HG02572.hp1
HG02572.hp2
others(1): Show 
HG01884.hp1
HG02572.hp1
HG02572.hp2
HG02723.hp2
 3_prime_UTR_variant MODIFIER c.*194G>A
c.*194G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 24/24 194 chr19 50661771
chr19:50716930 C
C
 T
T
 1 a0008c0030t0071
a0008c0030t0071
 1 HG03195.hp2
HG03195.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-11G>A
c.-11G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 2/24 chr19 50716930
chr19:50719453 T
T
 TC
TC
 7 a0001c0004t0096
a0001c0007t0070
a0002c0001t0047
others(4): Show 
a0001c0004t0096
a0001c0007t0070
a0002c0001t0047
a0002c0001t0048
a0002c0001t0049
a0002c0001t0098
a0002c0008t0097
 7 HG00597.hp1
HG01358.hp1
HG02056.hp2
others(4): Show 
HG00597.hp1
HG01358.hp1
HG02056.hp2
HG02809.hp1
HG03209.hp1
HG03927.hp2
NA19084.hp2
 5_prime_UTR_variant MODIFIER c.-92dupG
c.-92dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2535 chr19 50719453
chr19:50719460 T
T
 C
C
 4 a0001c0002t0109
a0001c0003t0035
a0001c0015t0027
others(1): Show 
a0001c0002t0109
a0001c0003t0035
a0001c0015t0027
a0002c0001t0027
 4 HG00621.hp1
HG03927.hp1
NA18964.hp2
others(1): Show 
HG00621.hp1
HG03927.hp1
NA18964.hp2
NA19090.hp2
 5_prime_UTR_variant MODIFIER c.-98A>G
c.-98A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2541 chr19 50719460
chr19:50719460 T
T
 TC
TC
 18 a0001c0002t0033
a0001c0002t0050
a0001c0002t0051
others(15): Show 
a0001c0002t0033
a0001c0002t0050
a0001c0002t0051
a0001c0002t0052
a0001c0002t0100
a0001c0002t0104
a0001c0002t0105
a0001c0003t0099
a0001c0003t0102
a0001c0003t0112
a0001c0004t0103
a0002c0001t0061
a0002c0001t0062
a0002c0001t0106
a0002c0001t0107
a0003c0006t0101
a0003c0006t0108
a0012c0026t0060
 19 HG00140.hp2
HG01433.hp1
HG02055.hp1
others(16): Show 
HG00140.hp2
HG01433.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02135.hp2
HG02258.hp1
HG02738.hp1
HG02738.hp2
HG02976.hp2
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18997.hp2
NA19000.hp1
NA19000.hp2
NA19060.hp1
 5_prime_UTR_variant MODIFIER c.-99dupG
c.-99dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2542 chr19 50719460
chr19:50719467 A
A
 AC
AC
 7 a0001c0003t0064
a0001c0003t0066
a0001c0007t0070
others(4): Show 
a0001c0003t0064
a0001c0003t0066
a0001c0007t0070
a0002c0001t0065
a0002c0001t0069
a0002c0008t0067
a0016c0035t0068
 7 HG00621.hp2
HG01109.hp2
HG01496.hp1
others(4): Show 
HG00621.hp2
HG01109.hp2
HG01496.hp1
HG02145.hp1
HG02809.hp1
HG02809.hp2
NA19060.hp2
 5_prime_UTR_variant MODIFIER c.-106dupG
c.-106dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2549 chr19 50719467
chr19:50719467 A
A
 C
C
 1 a0001c0016t0063
a0001c0016t0063
 1 HG01261.hp1
HG01261.hp1
 5_prime_UTR_variant MODIFIER c.-105T>G
c.-105T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2548 chr19 50719467
chr19:50719474 A
A
 AC
AC
 11 a0001c0002t0037
a0001c0002t0057
a0001c0003t0036
others(8): Show 
a0001c0002t0037
a0001c0002t0057
a0001c0003t0036
a0002c0001t0038
a0002c0001t0055
a0002c0001t0056
a0002c0001t0058
a0002c0001t0059
a0002c0001t0061
a0002c0001t0062
a0012c0026t0060
 11 HG00741.hp2
HG01433.hp1
HG01952.hp2
others(8): Show 
HG00741.hp2
HG01433.hp1
HG01952.hp2
HG02055.hp1
HG03710.hp2
HG04204.hp1
NA18964.hp1
NA18978.hp1
NA19000.hp1
NA19005.hp1
NA19084.hp1
 5_prime_UTR_variant MODIFIER c.-113dupG
c.-113dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2556 chr19 50719474
chr19:50719474 A
A
 C
C
 2 a0001c0003t0035
a0002c0001t0054
a0001c0003t0035
a0002c0001t0054
 2 HG03710.hp1
NA18964.hp2
HG03710.hp1
NA18964.hp2
 5_prime_UTR_variant MODIFIER c.-112T>G
c.-112T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2555 chr19 50719474
chr19:50719481 C
C
 G
G
 1 a0001c0002t0053
a0001c0002t0053
 1 NA19009.hp2
NA19009.hp2
 5_prime_UTR_variant MODIFIER c.-119G>C
c.-119G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2562 chr19 50719481
chr19:50719485 G
G
 C
C
 1 a0001c0003t0110
a0001c0003t0110
 1 HG02717.hp1
HG02717.hp1
 5_prime_UTR_variant MODIFIER c.-123C>G
c.-123C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2566 chr19 50719485
chr19:50719487 C
C
 CG
CG
 195 a0001c0002t0001
a0001c0002t0002
a0001c0002t0003
others(192): Show 
a0001c0002t0001
a0001c0002t0002
a0001c0002t0003
a0001c0002t0005
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0012
a0001c0002t0014
a0001c0002t0015
a0001c0002t0016
a0001c0002t0018
a0001c0002t0019
a0001c0002t0021
a0001c0002t0030
a0001c0002t0031
a0001c0002t0033
a0001c0002t0034
a0001c0002t0037
a0001c0002t0040
a0001c0002t0041
a0001c0002t0050
a0001c0002t0051
a0001c0002t0052
a0001c0002t0053
a0001c0002t0057
a0001c0002t0083
a0001c0002t0084
a0001c0002t0091
a0001c0002t0095
a0001c0002t0100
a0001c0002t0104
a0001c0002t0105
a0001c0002t0109
a0001c0003t0001
a0001c0003t0002
a0001c0003t0003
a0001c0003t0004
a0001c0003t0006
a0001c0003t0007
a0001c0003t0008
a0001c0003t0010
a0001c0003t0011
a0001c0003t0012
a0001c0003t0017
a0001c0003t0022
a0001c0003t0023
a0001c0003t0025
a0001c0003t0035
a0001c0003t0036
a0001c0003t0044
a0001c0003t0064
a0001c0003t0066
a0001c0003t0073
a0001c0003t0074
a0001c0003t0075
a0001c0003t0079
a0001c0003t0081
a0001c0003t0082
a0001c0003t0090
a0001c0003t0099
a0001c0003t0102
a0001c0003t0110
a0001c0003t0112
a0001c0004t0001
a0001c0004t0004
a0001c0004t0007
a0001c0004t0008
a0001c0004t0010
a0001c0004t0011
a0001c0004t0014
a0001c0004t0015
a0001c0004t0016
a0001c0004t0017
a0001c0004t0026
a0001c0004t0028
a0001c0004t0076
a0001c0004t0080
a0001c0004t0096
a0001c0004t0103
a0001c0007t0007
a0001c0007t0008
a0001c0007t0012
a0001c0007t0042
a0001c0007t0070
a0001c0009t0004
a0001c0009t0007
a0001c0009t0022
a0001c0010t0001
a0001c0010t0004
a0001c0011t0001
a0001c0011t0006
a0001c0012t0001
a0001c0012t0006
a0001c0012t0014
a0001c0013t0024
a0001c0014t0008
a0001c0014t0086
a0001c0015t0001
a0001c0015t0027
a0001c0016t0063
a0001c0016t0072
a0001c0018t0003
a0001c0018t0077
a0001c0019t0020
a0001c0020t0008
a0001c0021t0006
a0001c0032t0018
a0001c0038t0094
a0001c0039t0006
a0001c0040t0005
a0002c0001t0001
a0002c0001t0002
a0002c0001t0003
a0002c0001t0004
a0002c0001t0005
a0002c0001t0006
a0002c0001t0007
a0002c0001t0008
a0002c0001t0009
a0002c0001t0010
a0002c0001t0011
a0002c0001t0013
a0002c0001t0015
a0002c0001t0017
a0002c0001t0018
a0002c0001t0019
a0002c0001t0021
a0002c0001t0024
a0002c0001t0027
a0002c0001t0029
a0002c0001t0032
a0002c0001t0038
a0002c0001t0039
a0002c0001t0046
a0002c0001t0047
a0002c0001t0048
a0002c0001t0049
a0002c0001t0054
a0002c0001t0055
a0002c0001t0056
a0002c0001t0058
a0002c0001t0059
a0002c0001t0061
a0002c0001t0062
a0002c0001t0065
a0002c0001t0069
a0002c0001t0085
a0002c0001t0087
a0002c0001t0088
a0002c0001t0089
a0002c0001t0092
a0002c0001t0093
a0002c0001t0098
a0002c0001t0106
a0002c0001t0107
a0002c0008t0003
a0002c0008t0013
a0002c0008t0017
a0002c0008t0067
a0002c0008t0097
a0002c0028t0020
a0002c0041t0013
a0003c0005t0002
a0003c0005t0003
a0003c0005t0014
a0003c0005t0016
a0003c0005t0020
a0003c0005t0032
a0003c0005t0043
a0003c0006t0001
a0003c0006t0005
a0003c0006t0006
a0003c0006t0012
a0003c0006t0014
a0003c0006t0045
a0003c0006t0101
a0003c0006t0108
a0004c0017t0001
a0005c0022t0001
a0006c0023t0012
a0007c0034t0007
a0008c0030t0071
a0009c0025t0004
a0010c0029t0001
a0011c0031t0029
a0012c0026t0060
a0013c0027t0011
a0014c0024t0078
a0015c0033t0002
a0016c0035t0068
a0017c0036t0002
a0018c0037t0005
 315 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(312): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-126dupC
c.-126dupC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2569 chr19 50719487
chr19:50719587 A
A
 AC
AC
 24 a0001c0002t0021
a0001c0002t0037
a0001c0002t0040
others(21): Show 
a0001c0002t0021
a0001c0002t0037
a0001c0002t0040
a0001c0002t0041
a0001c0002t0050
a0001c0002t0051
a0001c0002t0052
a0001c0003t0025
a0001c0003t0035
a0001c0003t0036
a0001c0003t0044
a0001c0004t0026
a0001c0007t0042
a0001c0015t0027
a0002c0001t0021
a0002c0001t0027
a0002c0001t0038
a0002c0001t0039
a0002c0001t0046
a0002c0001t0047
a0002c0001t0048
a0002c0001t0049
a0003c0005t0043
a0003c0006t0045
 27 HG00438.hp1
HG00597.hp2
HG00741.hp2
others(24): Show 
HG00438.hp1
HG00597.hp2
HG00741.hp2
HG01099.hp1
HG01168.hp2
HG01192.hp1
HG01192.hp2
HG01358.hp1
HG02056.hp2
HG02071.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp2
HG03225.hp2
HG03239.hp1
HG03688.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp1
NA18964.hp2
NA18997.hp1
NA19005.hp1
NA19090.hp2
 5_prime_UTR_variant MODIFIER c.-226dupG
c.-226dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2669 chr19 50719587
chr19:50719624 G
G
 A
A
 1 a0001c0003t0112
a0001c0003t0112
 1 HG04228.hp1
HG04228.hp1
 5_prime_UTR_variant MODIFIER c.-262C>T
c.-262C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2705 chr19 50719624
chr19:50719684 G
G
 T
T
 1 a0001c0002t0034
a0001c0002t0034
 1 HG03490.hp1
HG03490.hp1
 5_prime_UTR_variant MODIFIER c.-322C>A
c.-322C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/24 2765 chr19 50719684

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr19:50662778 G
G
 A
A
 1 a0002c0001t0002g0176
a0002c0001t0002g0176
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.5769-96C>T
c.5769-96C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50662778
chr19:50662808 G
G
 A
A
 14 a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
others(11): Show 
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0110g0313
a0001c0010t0001g0285
a0001c0010t0001g0286
a0002c0001t0004g0135
a0002c0001t0047g0024
a0013c0027t0011g0228
 14 HG00642.hp2
HG01074.hp2
HG01081.hp1
others(11): Show 
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01952.hp1
HG02717.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp2
 intron_variant MODIFIER c.5769-126C>T
c.5769-126C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50662808
chr19:50662811 G
G
 GGA
GGA
 52 a0001c0002t0007g0269
a0001c0002t0010g0197
a0001c0002t0011g0081
others(49): Show 
a0001c0002t0007g0269
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0014t0008g0230
a0001c0018t0077g0123
a0001c0020t0008g0260
a0001c0038t0094g0287
a0002c0001t0004g0135
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0047g0024
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
a0013c0027t0011g0228
 52 HG00642.hp2
HG01069.hp2
HG01071.hp2
others(49): Show 
HG00642.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01952.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02970.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03831.hp2
HG03834.hp1
HG06807.hp1
NA18522.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.5769-131_5769-130d
others(4): Show 
c.5769-131_5769-130dupTC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50662811
chr19:50662819 G
G
 C
C
 1 a0002c0001t0002g0271
a0002c0001t0002g0271
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.5769-137C>G
c.5769-137C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50662819
chr19:50662855 G
G
 C
C
 2 a0003c0005t0003g0164
a0003c0005t0043g0020
a0003c0005t0003g0164
a0003c0005t0043g0020
 2 HG00597.hp2
HG02040.hp1
HG00597.hp2
HG02040.hp1
 intron_variant MODIFIER c.5769-173C>G
c.5769-173C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50662855
chr19:50662968 G
G
 A
A
 103 a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
others(100): Show 
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0143
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0002g0153
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0065
a0001c0003t0007g0087
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0008
a0001c0003t0035g0003
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0003t0102g0303
a0001c0004t0007g0063
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0014t0086g0242
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0040t0005g0206
a0002c0001t0003g0160
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0024g0247
a0002c0001t0058g0035
a0002c0001t0065g0042
a0002c0001t0089g0217
a0002c0001t0093g0156
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0012g0088
a0007c0034t0007g0252
a0011c0031t0029g0129
a0012c0026t0060g0038
 103 HG00323.hp2
HG00597.hp2
HG00621.hp1
others(100): Show 
HG00323.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp1
HG01109.hp2
HG01192.hp2
HG01261.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18960.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18978.hp1
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.5769-286C>T
c.5769-286C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50662968
chr19:50663194 G
G
 A
A
 152 a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
others(149): Show 
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0030g0246
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0064g0044
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0020t0008g0260
a0001c0032t0018g0185
a0001c0040t0005g0206
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0024g0247
a0002c0001t0047g0024
a0002c0001t0058g0035
a0002c0001t0065g0042
a0002c0001t0089g0217
a0002c0001t0093g0156
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0012g0088
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
 152 HG00323.hp2
HG00438.hp2
HG00597.hp2
others(149): Show 
HG00323.hp2
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18978.hp1
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.5769-512C>T
c.5769-512C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663194
chr19:50663280 C
C
 CAG
CAG
 19 a0001c0002t0003g0143
a0001c0002t0083g0229
a0001c0003t0003g0253
others(16): Show 
a0001c0002t0003g0143
a0001c0002t0083g0229
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0035g0003
a0001c0016t0063g0040
a0001c0018t0003g0126
a0002c0008t0003g0205
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0012c0026t0060g0038
 19 HG00323.hp2
HG00597.hp2
HG00738.hp1
others(16): Show 
HG00323.hp2
HG00597.hp2
HG00738.hp1
HG01070.hp1
HG01261.hp1
HG01891.hp2
HG02040.hp1
HG02055.hp1
HG02523.hp2
HG03516.hp1
NA18612.hp2
NA18964.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18979.hp1
NA18983.hp1
NA19067.hp2
NA19240.hp1
 intron_variant MODIFIER c.5769-599_5769-598i
others(4): Show 
c.5769-599_5769-598insCT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663280
chr19:50663282 C
C
 CAG
CAG
 137 a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
others(134): Show 
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0030g0246
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0004g0054
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0036g0004
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0027g0028
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0032t0018g0185
a0001c0040t0005g0206
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0024g0247
a0002c0001t0047g0024
a0002c0001t0058g0035
a0002c0001t0065g0042
a0002c0001t0089g0217
a0002c0001t0093g0156
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0006t0012g0088
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0013c0027t0011g0228
 137 HG00438.hp2
HG00621.hp1
HG00621.hp2
others(134): Show 
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18969.hp1
NA18978.hp1
NA18986.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp1
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.5769-602_5769-601d
others(4): Show 
c.5769-602_5769-601dupCT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663282
chr19:50663282 C
C
 G
G
 19 a0001c0002t0003g0143
a0001c0002t0083g0229
a0001c0003t0003g0253
others(16): Show 
a0001c0002t0003g0143
a0001c0002t0083g0229
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0035g0003
a0001c0016t0063g0040
a0001c0018t0003g0126
a0002c0008t0003g0205
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0012c0026t0060g0038
 19 HG00323.hp2
HG00597.hp2
HG00738.hp1
others(16): Show 
HG00323.hp2
HG00597.hp2
HG00738.hp1
HG01070.hp1
HG01261.hp1
HG01891.hp2
HG02040.hp1
HG02055.hp1
HG02523.hp2
HG03516.hp1
NA18612.hp2
NA18964.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18979.hp1
NA18983.hp1
NA19067.hp2
NA19240.hp1
 intron_variant MODIFIER c.5769-600G>C
c.5769-600G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663282
chr19:50663358 C
C
 T
T
 10 a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
others(7): Show 
a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
 10 HG01109.hp2
HG01884.hp2
HG02109.hp2
others(7): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG03041.hp2
NA20300.hp1
 intron_variant MODIFIER c.5769-676G>A
c.5769-676G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663358
chr19:50663434 C
C
 G
G
 146 a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
others(143): Show 
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0030g0246
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0036g0004
a0001c0003t0073g0071
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0032t0018g0185
a0001c0040t0005g0206
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0024g0247
a0002c0001t0047g0024
a0002c0001t0058g0035
a0002c0001t0065g0042
a0002c0001t0089g0217
a0002c0001t0093g0156
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0012g0088
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
 146 HG00323.hp2
HG00438.hp2
HG00597.hp2
others(143): Show 
HG00323.hp2
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18978.hp1
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.5769-752G>C
c.5769-752G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663434
chr19:50663743 GA
GA
 G
G
 10 a0001c0002t0002g0218
a0001c0003t0004g0224
a0001c0003t0004g0226
others(7): Show 
a0001c0002t0002g0218
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0004t0080g0082
a0001c0019t0020g0235
a0001c0038t0094g0287
 10 HG01255.hp1
HG01256.hp1
HG02145.hp1
others(7): Show 
HG01255.hp1
HG01256.hp1
HG02145.hp1
HG02280.hp1
HG02818.hp1
HG03041.hp1
HG03471.hp2
HG03486.hp1
NA18522.hp2
NA18986.hp1
 intron_variant MODIFIER c.5769-1062delT
c.5769-1062delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663743
chr19:50663743 GAA
GAA
 G
G
 10 a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
others(7): Show 
a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
 10 HG01109.hp2
HG01884.hp2
HG02109.hp2
others(7): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG03041.hp2
NA20300.hp1
 intron_variant MODIFIER c.5769-1063_5769-106
others(6): Show 
c.5769-1063_5769-1062delTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663743
chr19:50663752 A
A
 G
G
 1 a0018c0037t0005g0120
a0018c0037t0005g0120
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.5769-1070T>C
c.5769-1070T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663752
chr19:50663762 G
G
 GA
GA
 6 a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0073g0071
others(3): Show 
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0073g0071
a0001c0003t0102g0303
a0001c0004t0010g0058
a0001c0019t0020g0235
 6 HG01243.hp2
HG01891.hp1
HG02258.hp1
others(3): Show 
HG01243.hp2
HG01891.hp1
HG02258.hp1
HG02572.hp1
HG02723.hp2
HG03041.hp1
 intron_variant MODIFIER c.5769-1081dupT
c.5769-1081dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663762
chr19:50663762 GAA
GAA
 G
G
 85 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(82): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0005g0257
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0009g0131
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0052g0025
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0112g0315
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0016t0072g0069
a0001c0021t0006g0102
a0001c0038t0094g0287
a0002c0001t0001g0057
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0056g0032
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0004c0017t0001g0001
a0005c0022t0001g0092
a0010c0029t0001g0204
a0014c0024t0078g0202
a0016c0035t0068g0041
 86 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp2
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp2
NA18951.hp2
NA18974.hp2
NA19010.hp2
NA19030.hp2
NA19060.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.5769-1082_5769-108
others(6): Show 
c.5769-1082_5769-1081delTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663762
chr19:50663768 A
A
 G
G
 1 a0001c0002t0018g0127
a0001c0002t0018g0127
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.5769-1086T>C
c.5769-1086T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663768
chr19:50663869 C
C
 T
T
 1 a0002c0001t0054g0031
a0002c0001t0054g0031
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.5769-1187G>A
c.5769-1187G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663869
chr19:50663912 T
T
 TTTTTC
TTTTTC
 9 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0023g0078
others(6): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0004t0080g0082
a0001c0018t0077g0123
 9 HG01109.hp2
HG02109.hp2
HG02145.hp1
others(6): Show 
HG01109.hp2
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02723.hp1
HG02970.hp2
HG03041.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.5769-1235_5769-123
others(9): Show 
c.5769-1235_5769-1231dupGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663912
chr19:50663924 T
T
 TTTC
TTTC
 5 a0001c0003t0007g0065
a0001c0009t0004g0249
a0001c0009t0007g0251
others(2): Show 
a0001c0003t0007g0065
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
 5 HG01884.hp2
HG02572.hp2
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
NA20300.hp1
 intron_variant MODIFIER c.5769-1243_5769-124
others(7): Show 
c.5769-1243_5769-1242insGAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663924
chr19:50663924 T
T
 TTTCTTTC
TTTCTTTC
 7 a0001c0003t0010g0076
a0001c0003t0012g0068
a0001c0003t0023g0239
others(4): Show 
a0001c0003t0010g0076
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0099g0308
a0002c0001t0007g0221
a0002c0001t0008g0055
 7 HG01981.hp2
HG02818.hp1
HG02965.hp2
others(4): Show 
HG01981.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03453.hp1
HG03579.hp2
HG03654.hp2
 intron_variant MODIFIER c.5769-1243_5769-124
others(11): Show 
c.5769-1243_5769-1242insGAAAGAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663924
chr19:50663926 C
C
 T
T
 5 a0001c0003t0007g0065
a0001c0009t0004g0249
a0001c0009t0007g0251
others(2): Show 
a0001c0003t0007g0065
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
 5 HG01884.hp2
HG02572.hp2
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
NA20300.hp1
 intron_variant MODIFIER c.5769-1244G>A
c.5769-1244G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663926
chr19:50663928 C
C
 T
T
 1 a0001c0003t0082g0083
a0001c0003t0082g0083
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.5769-1246G>A
c.5769-1246G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663928
chr19:50663930 C
C
 T
T
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.5769-1248G>A
c.5769-1248G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663930
chr19:50663938 C
C
 CT
CT
 4 a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0064g0044
others(1): Show 
a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0018t0077g0123
 4 HG01109.hp2
HG02109.hp2
HG02723.hp1
others(1): Show 
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG02970.hp2
 intron_variant MODIFIER c.5769-1257dupA
c.5769-1257dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663938
chr19:50663938 C
C
 T
T
 5 a0001c0003t0007g0065
a0001c0009t0004g0249
a0001c0009t0007g0251
others(2): Show 
a0001c0003t0007g0065
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
 5 HG01884.hp2
HG02572.hp2
HG02630.hp2
others(2): Show 
HG01884.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
NA20300.hp1
 intron_variant MODIFIER c.5769-1256G>A
c.5769-1256G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663938
chr19:50663939 TC
TC
 T
T
 3 a0001c0003t0023g0078
a0001c0004t0080g0082
a0001c0038t0094g0287
a0001c0003t0023g0078
a0001c0004t0080g0082
a0001c0038t0094g0287
 3 HG03471.hp2
HG03486.hp1
NA18522.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.5769-1258delG
c.5769-1258delG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663939
chr19:50663940 C
C
 CTCT
CTCT
 8 a0001c0004t0015g0066
a0001c0004t0016g0080
a0001c0004t0017g0245
others(5): Show 
a0001c0004t0015g0066
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0014t0086g0242
a0011c0031t0029g0129
 8 HG02486.hp1
HG02559.hp2
HG02622.hp2
others(5): Show 
HG02486.hp1
HG02559.hp2
HG02622.hp2
HG02818.hp2
HG03139.hp2
HG03209.hp1
HG03471.hp1
NA18906.hp2
 intron_variant MODIFIER c.5769-1259_5769-125
others(7): Show 
c.5769-1259_5769-1258insAGA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663940
chr19:50663940 C
C
 CTTT
CTTT
 75 a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
others(72): Show 
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0030g0246
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0014g0147
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0014t0008g0230
a0001c0015t0027g0028
a0001c0020t0008g0260
a0001c0040t0005g0206
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0015g0200
a0002c0001t0047g0024
a0002c0001t0058g0035
a0002c0001t0089g0217
a0002c0001t0093g0156
a0003c0005t0003g0241
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0013c0027t0011g0228
 75 HG00438.hp2
HG00621.hp1
HG00639.hp2
others(72): Show 
HG00438.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp2
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02074.hp1
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG06807.hp1
NA18950.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp1
NA18978.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp2
NA19009.hp2
NA19012.hp2
NA19089.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.5769-1261_5769-125
others(7): Show 
c.5769-1261_5769-1259dupAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663940
chr19:50663940 C
C
 CTTTT
CTTTT
 104 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(101): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0261
a0001c0002t0003g0143
a0001c0002t0005g0257
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0009g0131
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0018g0127
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0004g0224
a0001c0003t0017g0086
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0035g0003
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0099g0308
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0026g0013
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0021t0006g0102
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0056g0032
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0016g0166
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0010c0029t0001g0204
a0012c0026t0060g0038
a0014c0024t0078g0202
a0016c0035t0068g0041
 105 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(102): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00597.hp2
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02523.hp2
HG02622.hp1
HG02630.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp2
NA18951.hp2
NA18964.hp2
NA18966.hp2
NA18970.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19067.hp1
NA19074.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.5769-1262_5769-125
others(8): Show 
c.5769-1262_5769-1259dupAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663940
chr19:50663940 C
C
 CTTTTT
CTTTTT
 11 a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0052g0025
others(8): Show 
a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0052g0025
a0001c0003t0010g0076
a0001c0003t0012g0051
a0001c0003t0022g0075
a0001c0004t0026g0018
a0002c0008t0067g0046
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
 11 HG00621.hp2
HG01192.hp2
HG01257.hp1
others(8): Show 
HG00621.hp2
HG01192.hp2
HG01257.hp1
HG01496.hp2
HG02135.hp2
HG02572.hp1
HG02965.hp2
HG03139.hp1
NA18969.hp2
NA18974.hp1
NA19067.hp2
 intron_variant MODIFIER c.5769-1263_5769-125
others(9): Show 
c.5769-1263_5769-1259dupAAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663940
chr19:50663940 C
C
 T
T
 14 a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
others(11): Show 
a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0018t0077g0123
 14 HG01109.hp2
HG01884.hp2
HG02109.hp2
others(11): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02818.hp1
HG02970.hp2
HG03041.hp2
NA20300.hp1
 intron_variant MODIFIER c.5769-1258G>A
c.5769-1258G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50663940
chr19:50664122 CT
CT
 C
C
 172 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(169): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0257
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0002c0001t0001g0057
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0005g0144
a0002c0001t0005g0169
a0002c0001t0006g0141
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0150
a0002c0001t0015g0200
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0089g0217
a0002c0001t0093g0156
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 173 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(170): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19012.hp2
NA19030.hp2
NA19060.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.5769-1441delA
c.5769-1441delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664122
chr19:50664123 T
T
 TTTC
TTTC
 17 a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
others(14): Show 
a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0018t0077g0123
a0001c0038t0094g0287
 17 HG01109.hp2
HG01884.hp2
HG02109.hp2
others(14): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02818.hp1
HG02970.hp2
HG03041.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp2
NA20300.hp1
 intron_variant MODIFIER c.5769-1442_5769-144
others(7): Show 
c.5769-1442_5769-1441insGAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664123
chr19:50664124 T
T
 C
C
 1 a0001c0040t0005g0206
a0001c0040t0005g0206
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.5769-1442A>G
c.5769-1442A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664124
chr19:50664124 T
T
 TTC
TTC
 6 a0001c0003t0010g0076
a0001c0003t0023g0239
a0001c0003t0023g0240
others(3): Show 
a0001c0003t0010g0076
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0099g0308
a0002c0001t0007g0221
a0002c0001t0008g0055
 6 HG01981.hp2
HG02965.hp2
HG02976.hp2
others(3): Show 
HG01981.hp2
HG02965.hp2
HG02976.hp2
HG03453.hp1
HG03579.hp2
HG03654.hp2
 intron_variant MODIFIER c.5769-1443_5769-144
others(6): Show 
c.5769-1443_5769-1442insGA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664124
chr19:50664229 A
A
 G
G
 2 a0001c0003t0007g0087
a0001c0004t0011g0048
a0001c0003t0007g0087
a0001c0004t0011g0048
 2 HG02451.hp2
NA19043.hp1
HG02451.hp2
NA19043.hp1
 intron_variant MODIFIER c.5769-1547T>C
c.5769-1547T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664229
chr19:50664286 C
C
 T
T
 2 a0001c0003t0023g0078
a0001c0004t0080g0082
a0001c0003t0023g0078
a0001c0004t0080g0082
 2 HG03471.hp2
NA18522.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.5769-1604G>A
c.5769-1604G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664286
chr19:50664332 A
A
 G
G
 8 a0001c0003t0010g0076
a0001c0003t0023g0239
a0001c0003t0023g0240
others(5): Show 
a0001c0003t0010g0076
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0099g0308
a0002c0001t0007g0221
a0002c0001t0008g0055
 8 HG01981.hp2
HG02145.hp1
HG02280.hp1
others(5): Show 
HG01981.hp2
HG02145.hp1
HG02280.hp1
HG02965.hp2
HG02976.hp2
HG03453.hp1
HG03579.hp2
HG03654.hp2
 intron_variant MODIFIER c.5769-1650T>C
c.5769-1650T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664332
chr19:50664407 G
G
 A
A
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.5769-1725C>T
c.5769-1725C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664407
chr19:50664426 T
T
 C
C
 1 a0001c0016t0072g0069
a0001c0016t0072g0069
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.5769-1744A>G
c.5769-1744A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664426
chr19:50664469 T
T
 G
G
 4 a0001c0003t0012g0051
a0001c0007t0012g0077
a0003c0006t0012g0088
others(1): Show 
a0001c0003t0012g0051
a0001c0007t0012g0077
a0003c0006t0012g0088
a0006c0023t0012g0085
 4 HG02257.hp2
HG03130.hp1
HG03139.hp1
others(1): Show 
HG02257.hp2
HG03130.hp1
HG03139.hp1
NA18522.hp1
 intron_variant MODIFIER c.5768+1723A>C
c.5768+1723A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664469
chr19:50664573 G
G
 A
A
 31 a0001c0002t0010g0197
a0001c0003t0004g0054
a0001c0003t0004g0097
others(28): Show 
a0001c0002t0010g0197
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0025g0012
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0004t0004g0182
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0047g0024
a0008c0030t0071g0072
a0009c0025t0004g0282
a0013c0027t0011g0228
 31 HG00642.hp2
HG01069.hp2
HG01071.hp2
others(28): Show 
HG00642.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01952.hp1
HG02145.hp2
HG02717.hp1
HG02896.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03831.hp2
HG03834.hp1
 intron_variant MODIFIER c.5768+1619C>T
c.5768+1619C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664573
chr19:50664594 C
C
 T
T
 1 a0001c0002t0083g0229
a0001c0002t0083g0229
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.5768+1598G>A
c.5768+1598G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664594
chr19:50664632 A
A
 C
C
 1 a0001c0018t0077g0123
a0001c0018t0077g0123
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.5768+1560T>G
c.5768+1560T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664632
chr19:50664810 A
A
 G
G
 1 a0001c0002t0015g0138
a0001c0002t0015g0138
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.5768+1382T>C
c.5768+1382T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664810
chr19:50664884 A
A
 G
G
 5 a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
others(2): Show 
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
 5 HG01993.hp2
HG02738.hp1
HG03704.hp1
others(2): Show 
HG01993.hp2
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.5768+1308T>C
c.5768+1308T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664884
chr19:50664938 T
T
 A
A
 20 a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
others(17): Show 
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0038t0094g0287
a0002c0001t0007g0221
a0002c0001t0008g0055
 20 HG01109.hp2
HG01884.hp2
HG01981.hp2
others(17): Show 
HG01109.hp2
HG01884.hp2
HG01981.hp2
HG02109.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02818.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
NA18522.hp2
NA20300.hp1
 intron_variant MODIFIER c.5768+1254A>T
c.5768+1254A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664938
chr19:50664950 G
G
 A
A
 63 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(60): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0005g0257
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0009g0131
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0052g0025
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0017g0086
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0003t0112g0315
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0021t0006g0102
a0002c0001t0001g0057
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0056g0032
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0004c0017t0001g0001
a0005c0022t0001g0092
a0010c0029t0001g0204
a0014c0024t0078g0202
a0016c0035t0068g0041
 64 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(61): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02004.hp2
HG02055.hp2
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02622.hp1
HG02735.hp2
HG02886.hp1
HG03017.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp1
NA18951.hp2
NA18974.hp2
NA19010.hp2
NA19030.hp2
NA19060.hp1
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.5768+1242C>T
c.5768+1242C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664950
chr19:50664950 G
G
 T
T
 14 a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
others(11): Show 
a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0038t0094g0287
 14 HG01109.hp2
HG01884.hp2
HG02109.hp2
others(11): Show 
HG01109.hp2
HG01884.hp2
HG02109.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02818.hp1
HG03041.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp2
NA20300.hp1
 intron_variant MODIFIER c.5768+1242C>A
c.5768+1242C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50664950
chr19:50665069 T
T
 G
G
 25 a0001c0002t0018g0127
a0001c0003t0004g0079
a0001c0003t0007g0087
others(22): Show 
a0001c0002t0018g0127
a0001c0003t0004g0079
a0001c0003t0007g0087
a0001c0003t0011g0050
a0001c0003t0036g0004
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0011g0048
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0032t0018g0185
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0007c0034t0007g0252
 25 HG00621.hp2
HG00741.hp1
HG00741.hp2
others(22): Show 
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01192.hp2
HG02451.hp2
HG02523.hp2
HG02630.hp1
HG02647.hp2
HG02809.hp1
HG02896.hp1
HG02970.hp1
HG03209.hp2
HG03225.hp2
HG03579.hp1
HG03688.hp1
HG04184.hp1
NA18966.hp2
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp1
NA19074.hp2
NA19090.hp1
 intron_variant MODIFIER c.5768+1123A>C
c.5768+1123A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665069
chr19:50665159 T
T
 C
C
 22 a0001c0002t0001g0189
a0001c0003t0007g0065
a0001c0003t0010g0076
others(19): Show 
a0001c0002t0001g0189
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0018t0077g0123
a0001c0038t0094g0287
a0002c0001t0007g0221
a0002c0001t0008g0055
 22 HG01109.hp2
HG01175.hp1
HG01884.hp2
others(19): Show 
HG01109.hp2
HG01175.hp1
HG01884.hp2
HG01981.hp2
HG02109.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
NA18522.hp2
NA20300.hp1
 intron_variant MODIFIER c.5768+1033A>G
c.5768+1033A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665159
chr19:50665241 C
C
 T
T
 1 a0002c0001t0003g0148
a0002c0001t0003g0148
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.5768+951G>A
c.5768+951G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665241
chr19:50665303 T
T
 C
C
 24 a0001c0002t0007g0269
a0001c0002t0011g0081
a0001c0003t0007g0065
others(21): Show 
a0001c0002t0007g0269
a0001c0002t0011g0081
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0004t0008g0049
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0020t0008g0260
a0001c0038t0094g0287
a0002c0001t0007g0221
a0002c0001t0008g0055
 24 HG01109.hp2
HG01884.hp2
HG01981.hp2
others(21): Show 
HG01109.hp2
HG01884.hp2
HG01981.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03654.hp2
NA18522.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.5768+889A>G
c.5768+889A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665303
chr19:50665391 C
C
 T
T
 21 a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
others(18): Show 
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0025g0012
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0010t0001g0285
a0001c0010t0001g0286
a0002c0001t0047g0024
a0008c0030t0071g0072
a0009c0025t0004g0282
a0013c0027t0011g0228
 21 HG01074.hp2
HG01081.hp1
HG01243.hp1
others(18): Show 
HG01074.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01358.hp1
HG01515.hp1
HG01952.hp1
HG02145.hp2
HG02717.hp1
HG02896.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03831.hp2
 intron_variant MODIFIER c.5768+801G>A
c.5768+801G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665391
chr19:50665435 C
C
 T
T
 2 a0001c0003t0023g0078
a0001c0004t0080g0082
a0001c0003t0023g0078
a0001c0004t0080g0082
 2 HG03471.hp2
NA18522.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.5768+757G>A
c.5768+757G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665435
chr19:50665450 G
G
 A
A
 1 a0001c0019t0020g0235
a0001c0019t0020g0235
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.5768+742C>T
c.5768+742C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665450
chr19:50665499 A
A
 G
G
 26 a0001c0002t0007g0269
a0001c0002t0011g0081
a0001c0003t0007g0065
others(23): Show 
a0001c0002t0007g0269
a0001c0002t0011g0081
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0004t0080g0082
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0020t0008g0260
a0001c0038t0094g0287
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0047g0024
a0013c0027t0011g0228
 26 HG01074.hp2
HG01109.hp2
HG01243.hp2
others(23): Show 
HG01074.hp2
HG01109.hp2
HG01243.hp2
HG01358.hp1
HG01884.hp2
HG01981.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03471.hp2
HG03486.hp1
HG03654.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.5768+693T>C
c.5768+693T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665499
chr19:50665566 CA
CA
 C
C
 43 a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
others(40): Show 
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0257
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0030g0246
a0001c0002t0051g0026
a0001c0002t0057g0033
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0003g0292
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0102g0303
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0103g0310
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0020t0008g0260
a0002c0001t0001g0111
a0002c0001t0058g0035
 43 HG00323.hp2
HG00438.hp2
HG00621.hp1
others(40): Show 
HG00323.hp2
HG00438.hp2
HG00621.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp2
HG01243.hp2
HG01255.hp2
HG01884.hp2
HG01993.hp2
HG02074.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02886.hp2
HG02965.hp2
HG03017.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp1
HG04184.hp2
NA18522.hp2
NA18951.hp2
NA18962.hp1
NA18964.hp1
NA18978.hp1
NA18979.hp1
NA19005.hp2
NA19011.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.5768+625delT
c.5768+625delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665566
chr19:50665566 CAA
CAA
 C
C
 80 a0001c0002t0010g0197
a0001c0002t0018g0127
a0001c0002t0033g0302
others(77): Show 
a0001c0002t0010g0197
a0001c0002t0018g0127
a0001c0002t0033g0302
a0001c0003t0003g0253
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0002c0001t0003g0160
a0002c0001t0005g0213
a0002c0001t0010g0263
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0061g0039
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0093g0156
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0012g0088
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0018c0037t0005g0120
 80 HG00597.hp2
HG00621.hp2
HG00642.hp2
others(77): Show 
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00741.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01358.hp2
HG01515.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG02145.hp2
HG02257.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03831.hp2
HG03834.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18978.hp2
NA18983.hp1
NA19000.hp1
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19090.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.5768+624_5768+625d
others(4): Show 
c.5768+624_5768+625delTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665566
chr19:50665566 CAAA
CAAA
 C
C
 107 a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0168
others(104): Show 
a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0203
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0005g0259
a0001c0002t0009g0171
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0033g0306
a0001c0002t0053g0030
a0001c0002t0091g0115
a0001c0003t0002g0153
a0001c0003t0004g0224
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0036g0004
a0001c0003t0074g0124
a0001c0004t0015g0066
a0001c0007t0007g0216
a0001c0007t0070g0047
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0193
a0002c0001t0002g0125
a0002c0001t0002g0151
a0002c0001t0002g0155
a0002c0001t0002g0176
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0005g0128
a0002c0001t0005g0144
a0002c0001t0005g0169
a0002c0001t0005g0192
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0150
a0002c0001t0018g0167
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0017
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0029g0162
a0002c0001t0032g0154
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0055g0034
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0098g0299
a0002c0001t0107g0305
a0002c0008t0017g0208
a0002c0008t0097g0298
a0003c0005t0003g0164
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0101g0301
a0003c0006t0108g0309
a0005c0022t0001g0092
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0017c0036t0002g0294
 107 HG00408.hp1
HG00408.hp2
HG00423.hp1
others(104): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01517.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02135.hp1
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03486.hp2
HG03654.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp2
NA18906.hp1
NA18951.hp1
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18974.hp2
NA18979.hp2
NA18983.hp2
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5768+623_5768+625d
others(5): Show 
c.5768+623_5768+625delTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665566
chr19:50665566 CAAAA
CAAAA
 C
C
 54 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(51): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0044g0010
a0001c0003t0112g0315
a0001c0004t0008g0049
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0015t0001g0101
a0001c0019t0020g0235
a0002c0001t0001g0137
a0002c0001t0002g0094
a0002c0001t0002g0178
a0002c0001t0004g0135
a0002c0001t0005g0110
a0002c0001t0006g0141
a0002c0001t0017g0133
a0002c0001t0021g0019
a0002c0001t0039g0014
a0002c0001t0056g0032
a0003c0006t0014g0212
a0003c0006t0045g0007
a0004c0017t0001g0001
a0010c0029t0001g0204
a0016c0035t0068g0041
 55 HG00140.hp2
HG00323.hp1
HG00639.hp1
others(52): Show 
HG00140.hp2
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02109.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18997.hp1
NA19056.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.5768+622_5768+625d
others(6): Show 
c.5768+622_5768+625delTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665566
chr19:50665590 A
A
 G
G
 4 a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0016t0063g0040
others(1): Show 
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0016t0063g0040
a0001c0016t0072g0069
 4 HG01261.hp1
HG01884.hp1
HG02572.hp1
others(1): Show 
HG01261.hp1
HG01884.hp1
HG02572.hp1
HG02723.hp2
 intron_variant MODIFIER c.5768+602T>C
c.5768+602T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665590
chr19:50665650 T
T
 C
C
 3 a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0102g0303
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0102g0303
 3 HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
 intron_variant MODIFIER c.5768+542A>G
c.5768+542A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665650
chr19:50665737 T
T
 TAA
TAA
 7 a0001c0003t0036g0004
a0001c0004t0001g0104
a0001c0004t0014g0147
others(4): Show 
a0001c0003t0036g0004
a0001c0004t0001g0104
a0001c0004t0014g0147
a0001c0004t0016g0064
a0001c0004t0026g0013
a0001c0004t0026g0018
a0003c0005t0003g0241
 7 HG00741.hp1
HG00741.hp2
HG01070.hp1
others(4): Show 
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01192.hp2
HG02965.hp1
HG03491.hp1
HG03688.hp1
 intron_variant MODIFIER c.5768+453_5768+454d
others(4): Show 
c.5768+453_5768+454dupTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAA
TAAA
 59 a0001c0002t0002g0258
a0001c0002t0010g0197
a0001c0002t0012g0134
others(56): Show 
a0001c0002t0002g0258
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0015g0138
a0001c0002t0018g0127
a0001c0002t0037g0006
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0087
a0001c0003t0011g0050
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0035g0003
a0001c0003t0079g0142
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0014g0105
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0032t0018g0185
a0002c0001t0002g0113
a0002c0001t0002g0159
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0069g0045
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0012c0026t0060g0038
a0018c0037t0005g0120
 59 HG00597.hp2
HG00621.hp2
HG01069.hp2
others(56): Show 
HG00597.hp2
HG00621.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp2
HG01123.hp2
HG01358.hp2
HG01891.hp2
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02809.hp1
HG02818.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03834.hp1
HG04184.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19090.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.5768+452_5768+454d
others(5): Show 
c.5768+452_5768+454dupTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAA
TAAAA
 9 a0001c0002t0001g0250
a0001c0002t0003g0143
a0001c0002t0034g0002
others(6): Show 
a0001c0002t0001g0250
a0001c0002t0003g0143
a0001c0002t0034g0002
a0001c0002t0051g0026
a0001c0002t0105g0304
a0001c0003t0003g0253
a0002c0001t0013g0150
a0007c0034t0007g0252
a0011c0031t0029g0129
 9 HG01257.hp1
HG02486.hp1
HG02738.hp1
others(6): Show 
HG01257.hp1
HG02486.hp1
HG02738.hp1
HG02896.hp1
HG03490.hp1
HG03516.hp1
HG04184.hp2
NA18979.hp1
NA19003.hp2
 intron_variant MODIFIER c.5768+451_5768+454d
others(6): Show 
c.5768+451_5768+454dupTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAA
TAAAAA
 77 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(74): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0131
a0001c0002t0011g0081
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0040g0009
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0112g0315
a0001c0004t0008g0049
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0002c0001t0001g0057
a0002c0001t0001g0137
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0047g0024
a0002c0001t0056g0032
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0004c0017t0001g0001
a0005c0022t0001g0092
a0010c0029t0001g0204
a0013c0027t0011g0228
a0016c0035t0068g0041
 78 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(75): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01975.hp2
HG01981.hp2
HG01993.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.5768+450_5768+454d
others(7): Show 
c.5768+450_5768+454dupTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 2 a0002c0001t0002g0151
a0002c0001t0005g0213
a0002c0001t0002g0151
a0002c0001t0005g0213
 2 NA18971.hp2
NA18978.hp2
NA18971.hp2
NA18978.hp2
 intron_variant MODIFIER c.5768+441_5768+454d
others(16): Show 
c.5768+441_5768+454dupTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 11 a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0276
others(8): Show 
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0276
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0246
a0001c0002t0057g0033
a0001c0002t0095g0070
a0001c0016t0063g0040
a0001c0016t0072g0069
a0002c0001t0061g0039
 11 HG00733.hp1
HG01074.hp1
HG01099.hp2
others(8): Show 
HG00733.hp1
HG01074.hp1
HG01099.hp2
HG01255.hp2
HG01261.hp1
HG01884.hp1
HG03017.hp1
HG03704.hp1
NA18964.hp1
NA19000.hp1
NA20752.hp2
 intron_variant MODIFIER c.5768+440_5768+454d
others(17): Show 
c.5768+440_5768+454dupTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 10 a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0009g0099
others(7): Show 
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0009g0099
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0050g0027
a0001c0002t0109g0312
 10 HG00438.hp2
HG00621.hp1
HG00639.hp2
others(7): Show 
HG00438.hp2
HG00621.hp1
HG00639.hp2
HG00735.hp2
HG02074.hp2
HG02559.hp1
HG02738.hp2
HG03831.hp1
NA18962.hp1
NA19005.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(18): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(10): Show 
TAAAAAAAAAAAAAAAAA
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.5768+454_5768+455i
others(19): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(12): Show 
TAAAAAAAAAAAAAAAAAAA
 3 a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0102g0303
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0102g0303
 3 HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
 intron_variant MODIFIER c.5768+454_5768+455i
others(21): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(17): Show 
TAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0003t0004g0254
a0001c0003t0004g0254
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(26): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(18): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAA
 9 a0001c0003t0003g0292
a0001c0003t0004g0224
a0001c0003t0004g0226
others(6): Show 
a0001c0003t0003g0292
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0007g0053
a0001c0003t0012g0051
a0001c0003t0025g0012
a0001c0010t0001g0286
a0001c0014t0008g0230
a0001c0019t0020g0235
 9 HG00323.hp2
HG01255.hp1
HG01256.hp1
others(6): Show 
HG00323.hp2
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG02896.hp2
HG03041.hp1
HG03139.hp1
HG03490.hp2
HG06807.hp1
 intron_variant MODIFIER c.5768+454_5768+455i
others(27): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(19): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAA
 11 a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
others(8): Show 
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0006g0152
a0001c0003t0007g0074
a0001c0003t0010g0158
a0001c0003t0110g0313
a0001c0004t0008g0062
a0001c0010t0001g0285
a0006c0023t0012g0085
a0009c0025t0004g0282
 11 HG00642.hp2
HG01081.hp1
HG01243.hp1
others(8): Show 
HG00642.hp2
HG01081.hp1
HG01243.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp2
HG02717.hp1
HG03098.hp1
HG03492.hp1
HG03516.hp2
HG03831.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(28): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(20): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAA
 7 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0003t0004g0054
others(4): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0003t0004g0054
a0001c0003t0008g0231
a0001c0003t0090g0067
a0008c0030t0071g0072
a0014c0024t0078g0202
 7 HG00423.hp1
HG01952.hp1
HG03130.hp2
others(4): Show 
HG00423.hp1
HG01952.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
NA18974.hp2
NA19010.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(29): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(21): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0003t0081g0179
a0001c0004t0010g0058
a0001c0003t0081g0179
a0001c0004t0010g0058
 2 HG01891.hp1
HG03453.hp2
HG01891.hp1
HG03453.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(30): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(23): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0016g0112
others(1): Show 
a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0016g0112
a0001c0002t0019g0272
 4 HG02027.hp1
NA18960.hp2
NA18998.hp1
others(1): Show 
HG02027.hp1
NA18960.hp2
NA18998.hp1
NA19056.hp1
 intron_variant MODIFIER c.5768+454_5768+455i
others(32): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(24): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0015t0027g0028
a0001c0015t0027g0028
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(33): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(27): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0040t0005g0206
a0001c0040t0005g0206
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.5768+454_5768+455i
others(36): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(28): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0002t0002g0218
a0001c0002t0002g0218
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.5768+454_5768+455i
others(37): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(29): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0002t0053g0030
a0001c0002t0053g0030
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(38): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665737 T
T
 TAAAAAAA
others(30): Show 
TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0017c0036t0002g0294
a0017c0036t0002g0294
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.5768+454_5768+455i
others(39): Show 
c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665737
chr19:50665763 T
T
 G
G
 1 a0002c0001t0061g0039
a0002c0001t0061g0039
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.5768+429A>C
c.5768+429A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665763
chr19:50665808 T
T
 C
C
 35 a0001c0002t0010g0197
a0001c0003t0003g0292
a0001c0003t0004g0054
others(32): Show 
a0001c0002t0010g0197
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0012g0051
a0001c0003t0025g0012
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0004t0004g0182
a0001c0004t0008g0062
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0014t0008g0230
a0001c0016t0063g0040
a0001c0016t0072g0069
a0002c0001t0002g0187
a0002c0001t0002g0188
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
 35 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(32): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01358.hp2
HG01515.hp1
HG01884.hp1
HG01952.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp2
HG02717.hp1
HG02896.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03831.hp2
HG03834.hp1
HG06807.hp1
 intron_variant MODIFIER c.5768+384A>G
c.5768+384A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665808
chr19:50665900 G
G
 GCGCATGC
others(15): Show 
GCGCATGCCTGTAATCCCAGCTA
 46 a0001c0002t0018g0127
a0001c0003t0011g0050
a0001c0003t0012g0068
others(43): Show 
a0001c0002t0018g0127
a0001c0003t0011g0050
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0102g0303
a0001c0004t0001g0104
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0014t0086g0242
a0001c0018t0077g0123
a0001c0032t0018g0185
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0047g0024
a0002c0001t0092g0215
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0164
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0011c0031t0029g0129
a0013c0027t0011g0228
 46 HG00597.hp2
HG00621.hp2
HG00741.hp1
others(43): Show 
HG00597.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp1
HG01192.hp2
HG01358.hp1
HG01981.hp2
HG02040.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03834.hp2
HG04184.hp1
NA18906.hp2
NA18966.hp2
NA18969.hp2
NA18970.hp2
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19090.hp1
 intron_variant MODIFIER c.5768+291_5768+292i
others(24): Show 
c.5768+291_5768+292insTAGCTGGGATTACAGGCATGCG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665900
chr19:50665900 G
G
 GCGCATTC
others(15): Show 
GCGCATTCCTGTAATCCCAGCTA
 11 a0001c0003t0004g0079
a0001c0003t0007g0087
a0001c0003t0025g0008
others(8): Show 
a0001c0003t0004g0079
a0001c0003t0007g0087
a0001c0003t0025g0008
a0001c0004t0007g0063
a0001c0004t0011g0048
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0007c0034t0007g0252
 11 HG02109.hp2
HG02451.hp2
HG02647.hp2
others(8): Show 
HG02109.hp2
HG02451.hp2
HG02647.hp2
HG02809.hp1
HG02896.hp1
HG02970.hp1
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.5768+291_5768+292i
others(24): Show 
c.5768+291_5768+292insTAGCTGGGATTACAGGAATGCG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665900
chr19:50665902 A
A
 T
T
 57 a0001c0002t0018g0127
a0001c0003t0004g0079
a0001c0003t0007g0087
others(54): Show 
a0001c0002t0018g0127
a0001c0003t0004g0079
a0001c0003t0007g0087
a0001c0003t0011g0050
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0102g0303
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0014t0086g0242
a0001c0018t0077g0123
a0001c0032t0018g0185
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0047g0024
a0002c0001t0092g0215
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0164
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0007c0034t0007g0252
a0011c0031t0029g0129
a0013c0027t0011g0228
 57 HG00597.hp2
HG00621.hp2
HG00741.hp1
others(54): Show 
HG00597.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp1
HG01192.hp2
HG01358.hp1
HG01981.hp2
HG02040.hp1
HG02109.hp2
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03834.hp2
HG04184.hp1
NA18522.hp1
NA18906.hp2
NA18966.hp2
NA18969.hp2
NA18970.hp2
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19090.hp1
 intron_variant MODIFIER c.5768+290T>A
c.5768+290T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665902
chr19:50665925 C
C
 T
T
 123 a0001c0002t0002g0218
a0001c0002t0016g0112
a0001c0002t0018g0127
others(120): Show 
a0001c0002t0002g0218
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0053g0030
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0288
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0024g0247
a0002c0001t0047g0024
a0002c0001t0065g0042
a0002c0001t0106g0311
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 123 HG00140.hp2
HG00597.hp2
HG00621.hp2
others(120): Show 
HG00140.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18986.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.5768+267G>A
c.5768+267G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665925
chr19:50665942 C
C
 T
T
 8 a0001c0002t0002g0218
a0001c0002t0005g0259
a0001c0002t0016g0112
others(5): Show 
a0001c0002t0002g0218
a0001c0002t0005g0259
a0001c0002t0016g0112
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0040t0005g0206
a0003c0005t0003g0117
a0017c0036t0002g0294
 8 HG00544.hp1
HG02027.hp1
HG02071.hp2
others(5): Show 
HG00544.hp1
HG02027.hp1
HG02071.hp2
NA18964.hp1
NA18983.hp1
NA18986.hp1
NA19009.hp2
NA19089.hp1
 intron_variant MODIFIER c.5768+250G>A
c.5768+250G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665942
chr19:50665943 A
A
 G
G
 17 a0001c0002t0002g0218
a0001c0002t0005g0259
a0001c0002t0016g0112
others(14): Show 
a0001c0002t0002g0218
a0001c0002t0005g0259
a0001c0002t0016g0112
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0004t0008g0049
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0038t0094g0287
a0001c0040t0005g0206
a0003c0005t0003g0117
a0017c0036t0002g0294
 17 HG00544.hp1
HG01109.hp2
HG01243.hp2
others(14): Show 
HG00544.hp1
HG01109.hp2
HG01243.hp2
HG02027.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02723.hp1
HG03041.hp2
HG03225.hp1
HG03486.hp1
NA18964.hp1
NA18983.hp1
NA18986.hp1
NA19009.hp2
NA19089.hp1
NA19240.hp2
 intron_variant MODIFIER c.5768+249T>C
c.5768+249T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665943
chr19:50665951 T
T
 C
C
 8 a0001c0002t0002g0218
a0001c0002t0005g0259
a0001c0002t0016g0112
others(5): Show 
a0001c0002t0002g0218
a0001c0002t0005g0259
a0001c0002t0016g0112
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0040t0005g0206
a0017c0036t0002g0294
 8 HG00544.hp1
HG01192.hp1
HG02027.hp1
others(5): Show 
HG00544.hp1
HG01192.hp1
HG02027.hp1
HG02071.hp2
NA18964.hp1
NA18986.hp1
NA19009.hp2
NA19089.hp1
 intron_variant MODIFIER c.5768+241A>G
c.5768+241A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50665951
chr19:50666024 G
G
 GA
GA
 8 a0001c0002t0050g0027
a0001c0003t0011g0050
a0001c0003t0066g0043
others(5): Show 
a0001c0002t0050g0027
a0001c0003t0011g0050
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0102g0303
a0001c0019t0020g0235
a0002c0001t0005g0169
a0002c0001t0055g0034
 8 HG00738.hp2
HG01952.hp2
HG02145.hp1
others(5): Show 
HG00738.hp2
HG01952.hp2
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02738.hp2
HG03041.hp1
NA19030.hp1
 intron_variant MODIFIER c.5768+167dupT
c.5768+167dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50666024
chr19:50666032 A
A
 G
G
 1 a0003c0005t0003g0199
a0003c0005t0003g0199
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.5768+160T>C
c.5768+160T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50666032
chr19:50666040 AAAAG
AAAAG
 A
A
 21 a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
others(18): Show 
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0007g0053
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0025g0012
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0001c0014t0008g0230
a0008c0030t0071g0072
a0009c0025t0004g0282
 21 HG00323.hp1
HG00323.hp2
HG01081.hp1
others(18): Show 
HG00323.hp1
HG00323.hp2
HG01081.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp1
HG02486.hp2
HG02717.hp1
HG02896.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03831.hp2
HG06807.hp1
 intron_variant MODIFIER c.5768+148_5768+151d
others(6): Show 
c.5768+148_5768+151delCTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 23/23 chr19 50666040
chr19:50669359 C
C
 T
T
 2 a0001c0002t0001g0195
a0001c0002t0083g0229
a0001c0002t0001g0195
a0001c0002t0083g0229
 2 HG00738.hp1
HG01081.hp2
HG00738.hp1
HG01081.hp2
 intron_variant MODIFIER c.2675-74G>A
c.2675-74G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50669359
chr19:50669529 A
A
 G
G
 74 a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
others(71): Show 
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0002c0001t0002g0275
a0002c0001t0039g0014
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 74 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(71): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18983.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.2675-244T>C
c.2675-244T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50669529
chr19:50669544 C
C
 T
T
 1 a0002c0001t0002g0275
a0002c0001t0002g0275
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.2675-259G>A
c.2675-259G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50669544
chr19:50669680 G
G
 A
A
 4 a0001c0004t0004g0182
a0001c0004t0028g0234
a0001c0004t0028g0274
others(1): Show 
a0001c0004t0004g0182
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
 4 HG01358.hp2
HG02818.hp2
HG02976.hp1
others(1): Show 
HG01358.hp2
HG02818.hp2
HG02976.hp1
NA18906.hp2
 intron_variant MODIFIER c.2675-395C>T
c.2675-395C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50669680
chr19:50669772 T
T
 TA
TA
 74 a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
others(71): Show 
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 74 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(71): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.2675-488dupT
c.2675-488dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50669772
chr19:50669915 A
A
 T
T
 1 a0002c0001t0002g0273
a0002c0001t0002g0273
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.2675-630T>A
c.2675-630T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50669915
chr19:50669961 A
A
 C
C
 72 a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
others(69): Show 
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 72 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(69): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.2675-676T>G
c.2675-676T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50669961
chr19:50670166 C
C
 T
T
 73 a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
others(70): Show 
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 73 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(70): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.2675-881G>A
c.2675-881G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670166
chr19:50670258 C
C
 T
T
 4 a0002c0001t0001g0193
a0002c0001t0055g0034
a0002c0001t0087g0095
others(1): Show 
a0002c0001t0001g0193
a0002c0001t0055g0034
a0002c0001t0087g0095
a0015c0033t0002g0186
 4 HG01952.hp2
HG02004.hp1
HG02004.hp2
others(1): Show 
HG01952.hp2
HG02004.hp1
HG02004.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2675-973G>A
c.2675-973G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670258
chr19:50670275 C
C
 T
T
 2 a0001c0002t0005g0116
a0001c0015t0027g0028
a0001c0002t0005g0116
a0001c0015t0027g0028
 2 NA18998.hp1
NA19090.hp2
NA18998.hp1
NA19090.hp2
 intron_variant MODIFIER c.2675-990G>A
c.2675-990G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670275
chr19:50670296 T
T
 A
A
 74 a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
others(71): Show 
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 74 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(71): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.2675-1011A>T
c.2675-1011A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670296
chr19:50670314 T
T
 C
C
 1 a0002c0001t0009g0190
a0002c0001t0009g0190
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.2675-1029A>G
c.2675-1029A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670314
chr19:50670388 T
T
 C
C
 1 a0001c0004t0001g0104
a0001c0004t0001g0104
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.2675-1103A>G
c.2675-1103A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670388
chr19:50670517 C
C
 A
A
 1 a0002c0001t0007g0221
a0002c0001t0007g0221
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2675-1232G>T
c.2675-1232G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670517
chr19:50670628 A
A
 G
G
 8 a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
others(5): Show 
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0014t0086g0242
a0011c0031t0029g0129
 8 HG02486.hp1
HG02559.hp2
HG02622.hp2
others(5): Show 
HG02486.hp1
HG02559.hp2
HG02622.hp2
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.2675-1343T>C
c.2675-1343T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670628
chr19:50670649 C
C
 T
T
 1 a0002c0001t0019g0225
a0002c0001t0019g0225
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2675-1364G>A
c.2675-1364G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670649
chr19:50670651 TG
TG
 T
T
 79 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(76): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0112g0315
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0004c0017t0001g0001
a0005c0022t0001g0092
a0010c0029t0001g0204
 80 HG00140.hp1
HG00140.hp2
HG00408.hp1
others(77): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2674+1366delC
c.2674+1366delC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670651
chr19:50670659 A
A
 G
G
 82 a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
others(79): Show 
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 82 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(79): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.2674+1359T>C
c.2674+1359T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670659
chr19:50670824 C
C
 T
T
 1 a0002c0001t0002g0296
a0002c0001t0002g0296
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.2674+1194G>A
c.2674+1194G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670824
chr19:50670825 G
G
 A
A
 3 a0001c0003t0001g0059
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0001g0059
a0001c0003t0022g0075
a0001c0003t0022g0243
 3 HG02572.hp1
HG02723.hp2
NA21309.hp1
HG02572.hp1
HG02723.hp2
NA21309.hp1
 intron_variant MODIFIER c.2674+1193C>T
c.2674+1193C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670825
chr19:50670856 C
C
 T
T
 1 a0001c0018t0077g0123
a0001c0018t0077g0123
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2674+1162G>A
c.2674+1162G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50670856
chr19:50671022 G
G
 C
C
 10 a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0008g0231
others(7): Show 
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0008g0231
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0081g0179
a0001c0018t0003g0126
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
 10 HG01891.hp2
HG02055.hp1
HG02145.hp1
others(7): Show 
HG01891.hp2
HG02055.hp1
HG02145.hp1
HG02896.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
NA19240.hp1
 intron_variant MODIFIER c.2674+996C>G
c.2674+996C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671022
chr19:50671029 T
T
 G
G
 1 a0001c0004t0008g0049
a0001c0004t0008g0049
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2674+989A>C
c.2674+989A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671029
chr19:50671043 C
C
 T
T
 1 a0001c0003t0004g0191
a0001c0003t0004g0191
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2674+975G>A
c.2674+975G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671043
chr19:50671180 C
C
 CT
CT
 169 a0001c0002t0001g0091
a0001c0002t0001g0118
a0001c0002t0001g0119
others(166): Show 
a0001c0002t0001g0091
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0002g0159
a0002c0001t0005g0110
a0002c0001t0007g0221
a0002c0001t0008g0288
a0002c0001t0013g0121
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0098g0299
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0004c0017t0001g0001
a0005c0022t0001g0092
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0014c0024t0078g0202
a0017c0036t0002g0294
 170 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18974.hp2
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2674+837dupA
c.2674+837dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671180
chr19:50671180 C
C
 CTT
CTT
 29 a0001c0002t0001g0093
a0001c0002t0001g0181
a0001c0002t0003g0143
others(26): Show 
a0001c0002t0001g0093
a0001c0002t0001g0181
a0001c0002t0003g0143
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0003g0292
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0074g0124
a0001c0004t0001g0104
a0001c0004t0008g0062
a0001c0004t0026g0018
a0001c0007t0042g0015
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0020t0008g0260
a0003c0005t0002g0174
a0003c0005t0020g0149
a0011c0031t0029g0129
a0012c0026t0060g0038
a0018c0037t0005g0120
 29 HG00323.hp2
HG00741.hp1
HG01106.hp2
others(26): Show 
HG00323.hp2
HG00741.hp1
HG01106.hp2
HG01175.hp2
HG01192.hp2
HG01516.hp2
HG02055.hp1
HG02109.hp2
HG02132.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02886.hp1
HG02886.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03579.hp2
HG03669.hp2
HG04184.hp2
NA18979.hp1
NA19030.hp2
NA19067.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.2674+836_2674+837d
others(4): Show 
c.2674+836_2674+837dupAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671180
chr19:50671223 G
G
 A
A
 1 a0002c0001t0106g0311
a0002c0001t0106g0311
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.2674+795C>T
c.2674+795C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671223
chr19:50671285 G
G
 C
C
 74 a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
others(71): Show 
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 74 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(71): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.2674+733C>G
c.2674+733C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671285
chr19:50671478 C
C
 T
T
 5 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(2): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
 5 HG01109.hp2
HG02109.hp2
HG02723.hp1
others(2): Show 
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.2674+540G>A
c.2674+540G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671478
chr19:50671487 C
C
 CT
CT
 73 a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
others(70): Show 
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0032t0018g0185
a0001c0038t0094g0287
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0017c0036t0002g0294
a0018c0037t0005g0120
 73 HG00323.hp1
HG00323.hp2
HG00597.hp2
others(70): Show 
HG00323.hp1
HG00323.hp2
HG00597.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18983.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.2674+530dupA
c.2674+530dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671487
chr19:50671526 A
A
 C
C
 2 a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0187
a0002c0001t0002g0188
 2 HG01256.hp2
HG01258.hp2
HG01256.hp2
HG01258.hp2
 intron_variant MODIFIER c.2674+492T>G
c.2674+492T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671526
chr19:50671638 C
C
 T
T
 2 a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0016t0063g0040
a0001c0016t0072g0069
 2 HG01261.hp1
HG01884.hp1
HG01261.hp1
HG01884.hp1
 intron_variant MODIFIER c.2674+380G>A
c.2674+380G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 22/23 chr19 50671638
chr19:50672185 T
T
 C
C
 1 a0001c0002t0018g0127
a0001c0002t0018g0127
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2578-71A>G
c.2578-71A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672185
chr19:50672225 C
C
 T
T
 5 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(2): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
 5 HG01109.hp2
HG02109.hp2
HG02723.hp1
others(2): Show 
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.2578-111G>A
c.2578-111G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672225
chr19:50672284 G
G
 A
A
 1 a0002c0001t0106g0311
a0002c0001t0106g0311
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.2578-170C>T
c.2578-170C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672284
chr19:50672413 T
T
 C
C
 1 a0001c0002t0002g0295
a0001c0002t0002g0295
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.2578-299A>G
c.2578-299A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672413
chr19:50672503 C
C
 T
T
 2 a0002c0001t0032g0154
a0002c0001t0048g0022
a0002c0001t0032g0154
a0002c0001t0048g0022
 2 HG00544.hp2
HG02056.hp2
HG00544.hp2
HG02056.hp2
 intron_variant MODIFIER c.2578-389G>A
c.2578-389G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672503
chr19:50672537 C
C
 T
T
 9 a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
others(6): Show 
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0016c0035t0068g0041
 9 HG01496.hp1
HG02055.hp2
HG02451.hp1
others(6): Show 
HG01496.hp1
HG02055.hp2
HG02451.hp1
HG03130.hp1
HG03239.hp1
HG03486.hp2
HG04115.hp1
HG04204.hp2
NA20300.hp2
 intron_variant MODIFIER c.2578-423G>A
c.2578-423G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672537
chr19:50672555 C
C
 CA
CA
 36 a0001c0002t0001g0203
a0001c0002t0002g0108
a0001c0002t0002g0258
others(33): Show 
a0001c0002t0001g0203
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0006g0238
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0018g0127
a0001c0002t0033g0302
a0001c0002t0091g0115
a0001c0002t0109g0312
a0001c0003t0012g0068
a0001c0003t0022g0075
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0064g0044
a0001c0003t0110g0313
a0001c0012t0001g0106
a0001c0018t0077g0123
a0001c0020t0008g0260
a0002c0001t0002g0159
a0002c0001t0002g0188
a0002c0001t0003g0160
a0002c0001t0007g0221
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0013g0121
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0046g0011
a0002c0001t0049g0023
a0002c0001t0061g0039
a0002c0001t0098g0299
a0002c0008t0003g0205
a0002c0008t0067g0046
a0003c0006t0014g0212
 36 HG00408.hp2
HG00438.hp1
HG00597.hp1
others(33): Show 
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00735.hp1
HG01106.hp2
HG01109.hp2
HG01175.hp2
HG01258.hp2
HG01981.hp2
HG02027.hp2
HG02074.hp1
HG02129.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03579.hp2
HG03927.hp1
HG03927.hp2
NA18960.hp1
NA19000.hp1
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19060.hp1
NA19067.hp1
NA20300.hp2
 intron_variant MODIFIER c.2578-442dupT
c.2578-442dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672555
chr19:50672555 C
C
 CAAA
CAAA
 12 a0001c0003t0017g0086
a0001c0003t0074g0124
a0001c0003t0102g0303
others(9): Show 
a0001c0003t0017g0086
a0001c0003t0074g0124
a0001c0003t0102g0303
a0001c0004t0007g0063
a0001c0004t0028g0234
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0003c0005t0003g0241
a0003c0005t0032g0163
 12 HG01070.hp1
HG02258.hp1
HG02622.hp1
others(9): Show 
HG01070.hp1
HG02258.hp1
HG02622.hp1
HG02809.hp1
HG02886.hp1
HG02976.hp1
HG03225.hp1
HG03225.hp2
HG03579.hp1
NA18974.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2578-444_2578-442d
others(5): Show 
c.2578-444_2578-442dupTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672555
chr19:50672555 C
C
 CAAAA
CAAAA
 25 a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0066g0043
others(22): Show 
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0004t0001g0104
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0080g0082
a0001c0004t0103g0310
a0001c0014t0086g0242
a0001c0032t0018g0185
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0214
a0003c0005t0043g0020
a0011c0031t0029g0129
a0017c0036t0002g0294
a0018c0037t0005g0120
 25 HG00597.hp2
HG00741.hp1
HG01099.hp1
others(22): Show 
HG00597.hp2
HG00741.hp1
HG01099.hp1
HG02040.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02486.hp1
HG02622.hp2
HG02630.hp1
HG02896.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03669.hp2
HG03688.hp1
HG04184.hp1
HG04228.hp2
NA18612.hp2
NA18969.hp2
NA18970.hp2
NA18983.hp1
NA20805.hp1
 intron_variant MODIFIER c.2578-445_2578-442d
others(6): Show 
c.2578-445_2578-442dupTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672555
chr19:50672555 C
C
 CAAAAA
CAAAAA
 14 a0001c0003t0004g0079
a0001c0003t0007g0087
a0001c0003t0008g0231
others(11): Show 
a0001c0003t0004g0079
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0004t0016g0080
a0001c0004t0026g0018
a0001c0004t0096g0297
a0001c0007t0007g0216
a0003c0005t0020g0149
a0008c0030t0071g0072
a0009c0025t0004g0282
 14 HG01192.hp2
HG02559.hp2
HG02647.hp2
others(11): Show 
HG01192.hp2
HG02559.hp2
HG02647.hp2
HG02970.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03516.hp2
NA19030.hp1
NA19043.hp1
NA19067.hp2
 intron_variant MODIFIER c.2578-446_2578-442d
others(7): Show 
c.2578-446_2578-442dupTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672555
chr19:50672555 C
C
 CAAAAAAA
CAAAAAAA
 11 a0001c0003t0003g0253
a0001c0003t0004g0254
a0001c0003t0007g0065
others(8): Show 
a0001c0003t0003g0253
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0016t0063g0040
a0001c0016t0072g0069
a0006c0023t0012g0085
 11 HG01261.hp1
HG01884.hp1
HG01884.hp2
others(8): Show 
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG02257.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02965.hp2
HG03516.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.2578-448_2578-442d
others(9): Show 
c.2578-448_2578-442dupTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672555
chr19:50672555 CA
CA
 C
C
 12 a0001c0002t0001g0096
a0001c0002t0009g0223
a0001c0002t0083g0229
others(9): Show 
a0001c0002t0001g0096
a0001c0002t0009g0223
a0001c0002t0083g0229
a0001c0003t0001g0059
a0001c0003t0003g0292
a0001c0003t0079g0142
a0001c0011t0001g0280
a0001c0040t0005g0206
a0002c0001t0002g0145
a0002c0001t0017g0133
a0003c0006t0001g0248
a0003c0006t0006g0283
 12 HG00323.hp1
HG00323.hp2
HG00738.hp1
others(9): Show 
HG00323.hp1
HG00323.hp2
HG00738.hp1
HG01169.hp2
HG02451.hp1
HG03486.hp2
HG03704.hp1
HG03834.hp1
NA18986.hp2
NA19056.hp2
NA19089.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-442delT
c.2578-442delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672555
chr19:50672555 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 2 a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0028g0274
a0001c0004t0076g0244
 2 HG02818.hp2
NA18906.hp2
HG02818.hp2
NA18906.hp2
 intron_variant MODIFIER c.2578-452_2578-442d
others(13): Show 
c.2578-452_2578-442delTTTTTTTTTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672555
chr19:50672572 A
A
 G
G
 1 a0001c0004t0008g0049
a0001c0004t0008g0049
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2578-458T>C
c.2578-458T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672572
chr19:50672622 C
C
 T
T
 1 a0002c0001t0002g0211
a0002c0001t0002g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.2578-508G>A
c.2578-508G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672622
chr19:50672798 G
G
 A
A
 78 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(75): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0112g0315
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0004c0017t0001g0001
a0005c0022t0001g0092
a0010c0029t0001g0204
 79 HG00140.hp1
HG00140.hp2
HG00408.hp1
others(76): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-684C>T
c.2578-684C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50672798
chr19:50673065 G
G
 A
A
 30 a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
others(27): Show 
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0004t0007g0063
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0018t0003g0126
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
 30 HG01891.hp2
HG02055.hp1
HG02145.hp1
others(27): Show 
HG01891.hp2
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02622.hp1
HG02647.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.2578-951C>T
c.2578-951C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673065
chr19:50673111 G
G
 T
T
 5 a0001c0003t0004g0191
a0001c0004t0008g0062
a0001c0004t0010g0058
others(2): Show 
a0001c0003t0004g0191
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
 5 HG01891.hp1
HG02451.hp2
HG02486.hp2
others(2): Show 
HG01891.hp1
HG02451.hp2
HG02486.hp2
HG03098.hp1
HG06807.hp1
 intron_variant MODIFIER c.2578-997C>A
c.2578-997C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673111
chr19:50673329 G
G
 A
A
 3 a0001c0003t0001g0059
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0001g0059
a0001c0003t0022g0075
a0001c0003t0022g0243
 3 HG02572.hp1
HG02723.hp2
NA21309.hp1
HG02572.hp1
HG02723.hp2
NA21309.hp1
 intron_variant MODIFIER c.2578-1215C>T
c.2578-1215C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673329
chr19:50673406 C
C
 G
G
 1 a0001c0019t0020g0235
a0001c0019t0020g0235
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2578-1292G>C
c.2578-1292G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673406
chr19:50673407 C
C
 T
T
 1 a0001c0004t0080g0082
a0001c0004t0080g0082
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2578-1293G>A
c.2578-1293G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673407
chr19:50673437 C
C
 T
T
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2578-1323G>A
c.2578-1323G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673437
chr19:50673564 T
T
 C
C
 1 a0001c0002t0014g0198
a0001c0002t0014g0198
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.2578-1450A>G
c.2578-1450A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673564
chr19:50673592 A
A
 G
G
 12 a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
others(9): Show 
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0003t0073g0071
a0001c0003t0082g0083
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0016t0063g0040
a0001c0016t0072g0069
a0006c0023t0012g0085
 12 HG01243.hp2
HG01261.hp1
HG01884.hp1
others(9): Show 
HG01243.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG02257.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.2578-1478T>C
c.2578-1478T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673592
chr19:50673653 A
A
 G
G
 12 a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
others(9): Show 
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0003t0073g0071
a0001c0003t0082g0083
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0016t0063g0040
a0001c0016t0072g0069
a0006c0023t0012g0085
 12 HG01243.hp2
HG01261.hp1
HG01884.hp1
others(9): Show 
HG01243.hp2
HG01261.hp1
HG01884.hp1
HG01884.hp2
HG02257.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.2578-1539T>C
c.2578-1539T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673653
chr19:50673717 A
A
 C
C
 45 a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0004g0073
others(42): Show 
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0018t0003g0126
a0001c0038t0094g0287
a0003c0006t0012g0088
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
 45 HG01243.hp2
HG01358.hp2
HG01891.hp1
others(42): Show 
HG01243.hp2
HG01358.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.2578-1603T>G
c.2578-1603T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673717
chr19:50673732 A
A
 C
C
 5 a0001c0003t0004g0191
a0001c0004t0008g0062
a0001c0004t0010g0058
others(2): Show 
a0001c0003t0004g0191
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
 5 HG01891.hp1
HG02451.hp2
HG02486.hp2
others(2): Show 
HG01891.hp1
HG02451.hp2
HG02486.hp2
HG03098.hp1
HG06807.hp1
 intron_variant MODIFIER c.2578-1618T>G
c.2578-1618T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673732
chr19:50673745 A
A
 C
C
 1 a0002c0001t0021g0019
a0002c0001t0021g0019
 1 NA18997.hp1
NA18997.hp1
 intron_variant MODIFIER c.2578-1631T>G
c.2578-1631T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673745
chr19:50673777 T
T
 C
C
 5 a0001c0003t0004g0191
a0001c0004t0008g0062
a0001c0004t0010g0058
others(2): Show 
a0001c0003t0004g0191
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
 5 HG01891.hp1
HG02451.hp2
HG02486.hp2
others(2): Show 
HG01891.hp1
HG02451.hp2
HG02486.hp2
HG03098.hp1
HG06807.hp1
 intron_variant MODIFIER c.2578-1663A>G
c.2578-1663A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673777
chr19:50673814 C
C
 CT
CT
 103 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(100): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0004g0254
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0079g0142
a0001c0003t0099g0308
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0008g0049
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0005g0213
a0002c0001t0009g0146
a0002c0001t0010g0264
a0002c0001t0017g0133
a0002c0001t0019g0225
a0002c0001t0047g0024
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0058g0035
a0002c0001t0098g0299
a0004c0017t0001g0001
a0005c0022t0001g0092
a0010c0029t0001g0204
a0013c0027t0011g0228
a0018c0037t0005g0120
 104 HG00140.hp1
HG00140.hp2
HG00408.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02559.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03239.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18951.hp2
NA18962.hp1
NA18978.hp1
NA18978.hp2
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19056.hp2
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-1701dupA
c.2578-1701dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673814
chr19:50673814 C
C
 CTT
CTT
 14 a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0004t0008g0062
others(11): Show 
a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0016c0035t0068g0041
 14 HG01496.hp1
HG01891.hp1
HG02055.hp2
others(11): Show 
HG01496.hp1
HG01891.hp1
HG02055.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03486.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.2578-1702_2578-170
others(6): Show 
c.2578-1702_2578-1701dupAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673814
chr19:50673814 CT
CT
 C
C
 29 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(26): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0005g0192
a0014c0024t0078g0202
 29 HG00323.hp1
HG00323.hp2
HG00423.hp1
others(26): Show 
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00642.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01515.hp1
HG02258.hp1
HG02717.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2578-1701delA
c.2578-1701delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673814
chr19:50673816 T
T
 A
A
 1 a0003c0005t0032g0163
a0003c0005t0032g0163
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2578-1702A>T
c.2578-1702A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673816
chr19:50673852 G
G
 C
C
 1 a0002c0001t0002g0176
a0002c0001t0002g0176
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2578-1738C>G
c.2578-1738C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673852
chr19:50673904 A
A
 G
G
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.2578-1790T>C
c.2578-1790T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673904
chr19:50673909 A
A
 G
G
 1 a0006c0023t0012g0085
a0006c0023t0012g0085
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2578-1795T>C
c.2578-1795T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673909
chr19:50673943 A
A
 C
C
 156 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(153): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0004g0054
a0001c0003t0004g0191
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0017g0133
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0029g0162
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0065g0042
a0002c0001t0085g0170
a0002c0008t0017g0208
a0002c0008t0097g0298
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0108g0309
a0004c0017t0001g0001
a0006c0023t0012g0085
a0010c0029t0001g0204
a0011c0031t0029g0129
a0013c0027t0011g0228
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 157 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(154): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp2
NA18974.hp1
NA18979.hp2
NA18983.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19084.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-1829T>G
c.2578-1829T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50673943
chr19:50674001 C
C
 A
A
 1 a0003c0005t0032g0163
a0003c0005t0032g0163
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2578-1887G>T
c.2578-1887G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674001
chr19:50674002 A
A
 G
G
 1 a0003c0005t0032g0163
a0003c0005t0032g0163
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2578-1888T>C
c.2578-1888T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674002
chr19:50674055 A
A
 G
G
 1 a0006c0023t0012g0085
a0006c0023t0012g0085
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2578-1941T>C
c.2578-1941T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674055
chr19:50674095 A
A
 AT
AT
 127 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(124): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0004g0135
a0002c0001t0005g0128
a0002c0001t0005g0213
a0002c0001t0015g0200
a0002c0001t0019g0225
a0002c0001t0021g0019
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0058g0035
a0002c0001t0085g0170
a0004c0017t0001g0001
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
 128 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(125): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18951.hp2
NA18962.hp1
NA18969.hp1
NA18978.hp1
NA18978.hp2
NA18997.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-1982dupA
c.2578-1982dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674095
chr19:50674119 G
G
 A
A
 1 a0001c0003t0079g0142
a0001c0003t0079g0142
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2578-2005C>T
c.2578-2005C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674119
chr19:50674263 G
G
 C
C
 27 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(24): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0110g0313
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0038g0005
a0014c0024t0078g0202
 27 HG00323.hp1
HG00323.hp2
HG00423.hp1
others(24): Show 
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00642.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG02717.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2578-2149C>G
c.2578-2149C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674263
chr19:50674294 G
G
 A
A
 83 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(80): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0005g0213
a0002c0001t0015g0200
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0058g0035
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 84 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(81): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18969.hp1
NA18978.hp1
NA18978.hp2
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-2180C>T
c.2578-2180C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674294
chr19:50674435 A
A
 G
G
 2 a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0187
a0002c0001t0002g0188
 2 HG01256.hp2
HG01258.hp2
HG01256.hp2
HG01258.hp2
 intron_variant MODIFIER c.2578-2321T>C
c.2578-2321T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674435
chr19:50674442 C
C
 A
A
 1 a0003c0005t0032g0163
a0003c0005t0032g0163
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2578-2328G>T
c.2578-2328G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674442
chr19:50674661 C
C
 T
T
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.2578-2547G>A
c.2578-2547G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674661
chr19:50674662 G
G
 A
A
 2 a0001c0002t0005g0116
a0001c0015t0027g0028
a0001c0002t0005g0116
a0001c0015t0027g0028
 2 NA18998.hp1
NA19090.hp2
NA18998.hp1
NA19090.hp2
 intron_variant MODIFIER c.2578-2548C>T
c.2578-2548C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674662
chr19:50674701 C
C
 T
T
 1 a0001c0007t0012g0077
a0001c0007t0012g0077
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2578-2587G>A
c.2578-2587G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674701
chr19:50674774 A
A
 T
T
 26 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(23): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0004t0007g0063
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
 26 HG02055.hp1
HG02145.hp1
HG02572.hp1
others(23): Show 
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2578-2660T>A
c.2578-2660T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674774
chr19:50674804 G
G
 A
A
 49 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(46): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0004t0004g0182
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0014t0008g0230
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0040t0005g0206
a0002c0001t0038g0005
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0014c0024t0078g0202
a0017c0036t0002g0294
 49 HG00423.hp1
HG00597.hp2
HG01070.hp1
others(46): Show 
HG00423.hp1
HG00597.hp2
HG01070.hp1
HG01109.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02040.hp1
HG02071.hp2
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18960.hp2
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19056.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-2690C>T
c.2578-2690C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674804
chr19:50674814 C
C
 G
G
 2 a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0187
a0002c0001t0002g0188
 2 HG01256.hp2
HG01258.hp2
HG01256.hp2
HG01258.hp2
 intron_variant MODIFIER c.2578-2700G>C
c.2578-2700G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674814
chr19:50674859 C
C
 T
T
 1 a0002c0001t0019g0225
a0002c0001t0019g0225
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2578-2745G>A
c.2578-2745G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674859
chr19:50674872 G
G
 A
A
 1 a0002c0001t0002g0296
a0002c0001t0002g0296
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.2578-2758C>T
c.2578-2758C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50674872
chr19:50675061 C
C
 CA
CA
 10 a0001c0003t0004g0254
a0001c0003t0007g0087
a0001c0003t0010g0158
others(7): Show 
a0001c0003t0004g0254
a0001c0003t0007g0087
a0001c0003t0010g0158
a0001c0004t0001g0104
a0001c0011t0001g0052
a0002c0001t0001g0111
a0002c0001t0002g0159
a0002c0001t0003g0148
a0002c0001t0085g0170
a0018c0037t0005g0120
 10 HG00741.hp1
HG01167.hp2
HG02027.hp2
others(7): Show 
HG00741.hp1
HG01167.hp2
HG02027.hp2
HG02132.hp2
HG03540.hp2
HG03669.hp2
HG03831.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
 intron_variant MODIFIER c.2578-2948dupT
c.2578-2948dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675061
chr19:50675061 CA
CA
 C
C
 52 a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0168
others(49): Show 
a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0002g0218
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0006g0277
a0001c0002t0009g0180
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0052g0025
a0001c0002t0057g0033
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0102g0303
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0015t0027g0028
a0001c0019t0020g0235
a0001c0040t0005g0206
a0002c0001t0002g0125
a0002c0001t0002g0187
a0002c0001t0005g0090
a0002c0001t0005g0128
a0002c0001t0013g0150
a0002c0001t0021g0019
a0002c0001t0038g0005
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0199
a0003c0005t0020g0214
a0003c0006t0006g0283
a0003c0006t0014g0212
a0006c0023t0012g0085
a0014c0024t0078g0202
 52 HG00423.hp1
HG00438.hp2
HG01109.hp2
others(49): Show 
HG00423.hp1
HG00438.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp2
HG01358.hp2
HG01517.hp2
HG01884.hp2
HG01981.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03490.hp1
HG03688.hp2
NA18522.hp2
NA18612.hp2
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19030.hp2
NA19056.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19240.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-2948delT
c.2578-2948delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675061
chr19:50675061 CAA
CAA
 C
C
 106 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(103): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0002g0108
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0007g0269
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0018t0077g0123
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0008t0003g0205
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0043g0020
a0004c0017t0001g0001
a0008c0030t0071g0072
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
 107 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18951.hp2
NA18962.hp1
NA18983.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp2
NA19060.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-2949_2578-294
others(6): Show 
c.2578-2949_2578-2948delTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675061
chr19:50675061 CAAA
CAAA
 C
C
 15 a0001c0002t0001g0250
a0001c0002t0002g0258
a0001c0002t0009g0099
others(12): Show 
a0001c0002t0001g0250
a0001c0002t0002g0258
a0001c0002t0009g0099
a0001c0002t0105g0304
a0001c0003t0004g0079
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0012g0077
a0001c0007t0070g0047
a0001c0016t0072g0069
a0003c0006t0012g0088
a0007c0034t0007g0252
a0009c0025t0004g0282
a0017c0036t0002g0294
 15 HG00639.hp2
HG01257.hp1
HG01884.hp1
others(12): Show 
HG00639.hp2
HG01257.hp1
HG01884.hp1
HG02071.hp2
HG02129.hp1
HG02647.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp1
HG02976.hp1
HG03130.hp1
HG03516.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.2578-2950_2578-294
others(7): Show 
c.2578-2950_2578-2948delTTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675061
chr19:50675276 T
T
 C
C
 1 a0002c0001t0092g0215
a0002c0001t0092g0215
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.2578-3162A>G
c.2578-3162A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675276
chr19:50675320 G
G
 C
C
 1 a0002c0001t0021g0019
a0002c0001t0021g0019
 1 NA18997.hp1
NA18997.hp1
 intron_variant MODIFIER c.2578-3206C>G
c.2578-3206C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675320
chr19:50675430 G
G
 C
C
 174 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(171): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 175 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(172): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2578-3316C>G
c.2578-3316C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675430
chr19:50675584 G
G
 A
A
 158 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(155): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0007g0065
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 159 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2578-3470C>T
c.2578-3470C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675584
chr19:50675586 C
C
 A
A
 131 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(128): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0004g0073
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0012g0068
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0010c0029t0001g0204
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 132 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(129): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2578-3472G>T
c.2578-3472G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675586
chr19:50675631 T
T
 C
C
 1 a0001c0004t0026g0018
a0001c0004t0026g0018
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.2578-3517A>G
c.2578-3517A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675631
chr19:50675671 G
G
 A
A
 28 a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
others(25): Show 
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0004t0004g0182
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0014t0008g0230
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0017c0036t0002g0294
 28 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(25): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02071.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02965.hp2
HG02976.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp2
NA19067.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2578-3557C>T
c.2578-3557C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675671
chr19:50675712 T
T
 C
C
 162 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(159): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 163 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2578-3598A>G
c.2578-3598A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675712
chr19:50675762 G
G
 A
A
 1 a0001c0003t0004g0191
a0001c0003t0004g0191
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2578-3648C>T
c.2578-3648C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675762
chr19:50675800 G
G
 A
A
 1 a0001c0002t0015g0138
a0001c0002t0015g0138
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.2578-3686C>T
c.2578-3686C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675800
chr19:50675986 A
A
 T
T
 14 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(11): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0038g0005
a0014c0024t0078g0202
 14 HG00423.hp1
NA18960.hp2
NA18964.hp1
others(11): Show 
HG00423.hp1
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2578-3872T>A
c.2578-3872T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50675986
chr19:50676067 G
G
 A
A
 6 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(3): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
a0001c0004t0008g0049
 6 HG01109.hp2
HG02109.hp1
HG02109.hp2
others(3): Show 
HG01109.hp2
HG02109.hp1
HG02109.hp2
HG02723.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.2578-3953C>T
c.2578-3953C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676067
chr19:50676139 A
A
 AT
AT
 7 a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0064g0044
others(4): Show 
a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
a0001c0004t0008g0049
a0002c0001t0061g0039
a0002c0001t0098g0299
 7 HG00597.hp1
HG01109.hp2
HG02109.hp1
others(4): Show 
HG00597.hp1
HG01109.hp2
HG02109.hp1
HG02109.hp2
HG02723.hp1
HG02976.hp2
NA19000.hp1
 intron_variant MODIFIER c.2578-4026dupA
c.2578-4026dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676139
chr19:50676139 AT
AT
 A
A
 84 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(81): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0079g0142
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 85 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-4026delA
c.2578-4026delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676139
chr19:50676140 T
T
 A
A
 1 a0002c0001t0013g0150
a0002c0001t0013g0150
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.2578-4026A>T
c.2578-4026A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676140
chr19:50676297 T
T
 C
C
 1 a0001c0004t0096g0297
a0001c0004t0096g0297
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2578-4183A>G
c.2578-4183A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676297
chr19:50676455 A
A
 G
G
 175 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(172): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 176 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(173): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-4341T>C
c.2578-4341T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676455
chr19:50676548 G
G
 A
A
 27 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(24): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0004t0007g0063
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0019t0020g0235
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
 27 HG02055.hp1
HG02145.hp1
HG02572.hp1
others(24): Show 
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2578-4434C>T
c.2578-4434C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676548
chr19:50676640 T
T
 C
C
 164 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(161): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 165 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(162): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-4526A>G
c.2578-4526A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676640
chr19:50676662 T
T
 C
C
 2 a0001c0009t0004g0249
a0002c0001t0065g0042
a0001c0009t0004g0249
a0002c0001t0065g0042
 2 HG02809.hp2
NA20300.hp1
HG02809.hp2
NA20300.hp1
 intron_variant MODIFIER c.2578-4548A>G
c.2578-4548A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676662
chr19:50676669 C
C
 A
A
 1 a0003c0006t0101g0301
a0003c0006t0101g0301
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.2578-4555G>T
c.2578-4555G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676669
chr19:50676775 C
C
 T
T
 1 a0003c0006t0014g0212
a0003c0006t0014g0212
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.2578-4661G>A
c.2578-4661G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676775
chr19:50676776 C
C
 T
T
 2 a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0025g0012
a0001c0003t0066g0043
 2 HG02145.hp1
HG02896.hp2
HG02145.hp1
HG02896.hp2
 intron_variant MODIFIER c.2578-4662G>A
c.2578-4662G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676776
chr19:50676801 T
T
 C
C
 174 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(171): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 175 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(172): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-4687A>G
c.2578-4687A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50676801
chr19:50677022 C
C
 T
T
 1 a0001c0003t0001g0059
a0001c0003t0001g0059
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-4908G>A
c.2578-4908G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677022
chr19:50677046 T
T
 C
C
 1 a0001c0002t0091g0115
a0001c0002t0091g0115
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.2578-4932A>G
c.2578-4932A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677046
chr19:50677105 G
G
 T
T
 1 a0001c0002t0021g0021
a0001c0002t0021g0021
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.2578-4991C>A
c.2578-4991C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677105
chr19:50677127 C
C
 CT
CT
 113 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(110): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0010g0058
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0007g0221
a0002c0001t0009g0146
a0002c0001t0013g0121
a0002c0001t0019g0278
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0001t0085g0170
a0002c0001t0087g0095
a0002c0008t0097g0298
a0003c0005t0003g0117
a0003c0005t0032g0163
a0004c0017t0001g0001
a0007c0034t0007g0252
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0017c0036t0002g0294
 114 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(111): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18951.hp2
NA18962.hp1
NA18974.hp1
NA18983.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19060.hp1
NA19067.hp1
NA19084.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-5014dupA
c.2578-5014dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677127
chr19:50677127 C
C
 CTT
CTT
 7 a0001c0002t0009g0194
a0001c0002t0016g0112
a0001c0002t0031g0227
others(4): Show 
a0001c0002t0009g0194
a0001c0002t0016g0112
a0001c0002t0031g0227
a0001c0002t0050g0027
a0001c0003t0066g0043
a0002c0001t0005g0169
a0008c0030t0071g0072
 7 HG00738.hp2
HG01517.hp2
HG02027.hp1
others(4): Show 
HG00738.hp2
HG01517.hp2
HG02027.hp1
HG02145.hp1
HG02738.hp2
HG03195.hp2
HG03831.hp1
 intron_variant MODIFIER c.2578-5015_2578-501
others(6): Show 
c.2578-5015_2578-5014dupAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677127
chr19:50677127 CT
CT
 C
C
 24 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(21): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0007g0053
a0001c0003t0102g0303
a0001c0010t0001g0286
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0038t0094g0287
a0001c0040t0005g0206
a0002c0001t0005g0090
a0002c0001t0038g0005
a0014c0024t0078g0202
 24 HG00423.hp1
HG01243.hp1
HG01255.hp1
others(21): Show 
HG00423.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01515.hp1
HG01891.hp2
HG02258.hp1
HG03486.hp1
HG03490.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-5014delA
c.2578-5014delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677127
chr19:50677128 T
T
 C
C
 4 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
others(1): Show 
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0018t0077g0123
 4 HG02818.hp1
HG02970.hp2
HG03453.hp1
others(1): Show 
HG02818.hp1
HG02970.hp2
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.2578-5014A>G
c.2578-5014A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677128
chr19:50677129 T
T
 C
C
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2578-5015A>G
c.2578-5015A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677129
chr19:50677156 C
C
 T
T
 3 a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0018t0003g0126
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0018t0003g0126
 3 HG01891.hp2
NA19240.hp1
NA21309.hp1
HG01891.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-5042G>A
c.2578-5042G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677156
chr19:50677188 C
C
 T
T
 4 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
others(1): Show 
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0018t0077g0123
 4 HG02818.hp1
HG02970.hp2
HG03453.hp1
others(1): Show 
HG02818.hp1
HG02970.hp2
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.2578-5074G>A
c.2578-5074G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677188
chr19:50677259 C
C
 T
T
 4 a0001c0003t0017g0086
a0001c0003t0074g0124
a0001c0013t0024g0122
others(1): Show 
a0001c0003t0017g0086
a0001c0003t0074g0124
a0001c0013t0024g0122
a0001c0013t0024g0136
 4 HG02622.hp1
HG02886.hp1
HG03225.hp1
others(1): Show 
HG02622.hp1
HG02886.hp1
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.2578-5145G>A
c.2578-5145G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677259
chr19:50677273 T
T
 G
G
 176 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(173): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 177 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(174): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-5159A>C
c.2578-5159A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677273
chr19:50677289 A
A
 G
G
 1 a0001c0032t0018g0185
a0001c0032t0018g0185
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.2578-5175T>C
c.2578-5175T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677289
chr19:50677664 T
T
 C
C
 17 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(14): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0040t0005g0206
a0002c0001t0038g0005
a0014c0024t0078g0202
 17 HG00423.hp1
HG01891.hp2
NA18960.hp2
others(14): Show 
HG00423.hp1
HG01891.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-5550A>G
c.2578-5550A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677664
chr19:50677731 C
C
 T
T
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-5617G>A
c.2578-5617G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50677731
chr19:50678006 G
G
 A
A
 1 a0002c0008t0067g0046
a0002c0008t0067g0046
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.2578-5892C>T
c.2578-5892C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678006
chr19:50678048 T
T
 G
G
 130 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(127): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
 131 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(128): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-5934A>C
c.2578-5934A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678048
chr19:50678064 G
G
 A
A
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-5950C>T
c.2578-5950C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678064
chr19:50678159 T
T
 G
G
 176 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(173): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 177 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(174): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6045A>C
c.2578-6045A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678159
chr19:50678208 G
G
 A
A
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2578-6094C>T
c.2578-6094C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678208
chr19:50678303 C
C
 T
T
 2 a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0022g0075
a0001c0003t0022g0243
 2 HG02572.hp1
HG02723.hp2
HG02572.hp1
HG02723.hp2
 intron_variant MODIFIER c.2578-6189G>A
c.2578-6189G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678303
chr19:50678332 G
G
 A
A
 113 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(110): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
 114 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(111): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp2
NA19060.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6218C>T
c.2578-6218C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678332
chr19:50678412 C
C
 T
T
 27 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(24): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0004t0007g0063
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0019t0020g0235
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
 27 HG02055.hp1
HG02145.hp1
HG02572.hp1
others(24): Show 
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2578-6298G>A
c.2578-6298G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678412
chr19:50678508 T
T
 G
G
 1 a0002c0008t0003g0205
a0002c0008t0003g0205
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.2578-6394A>C
c.2578-6394A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678508
chr19:50678533 G
G
 A
A
 86 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(83): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0018t0077g0123
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 87 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(84): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02970.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6419C>T
c.2578-6419C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678533
chr19:50678591 G
G
 T
T
 65 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(62): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0019g0225
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
a0017c0036t0002g0294
 65 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(62): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2578-6477C>A
c.2578-6477C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678591
chr19:50678737 C
C
 CGGAGGGG
others(69): Show 
CGGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAAGATGATGG
 1 a0002c0001t0001g0193
a0002c0001t0001g0193
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.2578-6699_2578-662
others(80): Show 
c.2578-6699_2578-6624dupCCATCATCTTGACCCCTCCCCATCAC
CCTGACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCCCTCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678737
chr19:50678742 G
G
 GGGTCAGG
others(12): Show 
GGGTCAGGGTGATGGGGAAA
 1 a0002c0008t0013g0207
a0002c0008t0013g0207
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.2578-6647_2578-662
others(23): Show 
c.2578-6647_2578-6629dupTTTCCCCATCACCCTGACC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678742
chr19:50678752 G
G
 T
T
 1 a0001c0002t0009g0180
a0001c0002t0009g0180
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2578-6638C>A
c.2578-6638C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678752
chr19:50678760 A
A
 G
G
 1 a0001c0003t0003g0253
a0001c0003t0003g0253
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.2578-6646T>C
c.2578-6646T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678760
chr19:50678761 A
A
 AGGTCAGG
others(12): Show 
AGGTCAGGGTGATGGGGAGG
 1 a0002c0001t0027g0029
a0002c0001t0027g0029
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.2578-6666_2578-664
others(23): Show 
c.2578-6666_2578-6648dupCCTCCCCATCACCCTGACC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678761
chr19:50678761 A
A
 G
G
 1 a0001c0003t0003g0253
a0001c0003t0003g0253
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.2578-6647T>C
c.2578-6647T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678761
chr19:50678788 G
G
 A
A
 1 a0001c0003t0003g0253
a0001c0003t0003g0253
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.2578-6674C>T
c.2578-6674C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678788
chr19:50678788 G
G
 GTGATGGG
others(30): Show 
GTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGA
 3 a0001c0003t0073g0071
a0001c0004t0076g0244
a0001c0016t0072g0069
a0001c0003t0073g0071
a0001c0004t0076g0244
a0001c0016t0072g0069
 3 HG01243.hp2
HG01884.hp1
NA18906.hp2
HG01243.hp2
HG01884.hp1
NA18906.hp2
 intron_variant MODIFIER c.2578-6675_2578-667
others(41): Show 
c.2578-6675_2578-6674insTCCTGACCCCTCCCCACACCCTGACC
CCTCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678788
chr19:50678788 G
G
 GTGATGGG
others(432): Show 
GTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAA
GGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAGGGTGATGGGGGGG
TGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGAT
GGAGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGA
 1 a0003c0006t0012g0088
a0003c0006t0012g0088
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.2578-6675_2578-667
others(443): Show 
c.2578-6675_2578-6674insTCCTGACCCCTCCCCACACCCTGACC
CCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCTTTCCCCATCAC
CCTGACCCCTCTCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCT
CCATCACACTGACACCCCCCCATCACCCTGACCCCTTACCTGTAATGCTT
GTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678788
chr19:50678791 A
A
 ATGGGGAG
others(11): Show 
ATGGGGAGGGGTCAGGGTG
 5 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(2): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
 5 HG01109.hp2
HG02109.hp2
HG02723.hp1
others(2): Show 
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.2578-6678_2578-667
others(22): Show 
c.2578-6678_2578-6677insCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678791
chr19:50678791 A
A
 ATGGGGAG
others(87): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 3 a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0018t0003g0126
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0018t0003g0126
 3 HG01891.hp2
NA19240.hp1
NA21309.hp1
HG01891.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-6678_2578-667
others(98): Show 
c.2578-6678_2578-6677insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678791
chr19:50678791 A
A
 ATGGGGAG
others(991): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGA
GGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTT
ACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGAT
GGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0007c0034t0007g0252
a0007c0034t0007g0252
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.2578-6678_2578-667
others(1002): Show 
c.2578-6678_2578-6677insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCTTTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCT
CACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGA
CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCC
ATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCC
CTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCC
TGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678791
chr19:50678791 A
A
 ATGGGGAG
others(67): Show 
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTG
 2 a0001c0003t0102g0303
a0001c0004t0028g0274
a0001c0003t0102g0303
a0001c0004t0028g0274
 2 HG02258.hp1
HG02818.hp2
HG02258.hp1
HG02818.hp2
 intron_variant MODIFIER c.2578-6678_2578-667
others(78): Show 
c.2578-6678_2578-6677insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678791
chr19:50678798 G
G
 A
A
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6684C>T
c.2578-6684C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678798
chr19:50678799 G
G
 A
A
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6685C>T
c.2578-6685C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678799
chr19:50678805 A
A
 G
G
 165 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(162): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 166 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(163): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6691T>C
c.2578-6691T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678805
chr19:50678807 A
A
 G
G
 165 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(162): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 166 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(163): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6693T>C
c.2578-6693T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678807
chr19:50678816 A
A
 C
C
 7 a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0004g0135
others(4): Show 
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0004g0135
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
 7 HG01256.hp2
HG01257.hp2
HG01258.hp1
others(4): Show 
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01433.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.2578-6702T>G
c.2578-6702T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678816
chr19:50678825 G
G
 A
A
 1 a0002c0001t0006g0141
a0002c0001t0006g0141
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.2578-6711C>T
c.2578-6711C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678825
chr19:50678826 G
G
 A
A
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2578-6712C>T
c.2578-6712C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678826
chr19:50678828 G
G
 GA
GA
 6 a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
others(3): Show 
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
a0001c0016t0063g0040
a0001c0038t0094g0287
a0003c0006t0101g0301
 6 HG01261.hp1
HG02055.hp2
HG03486.hp1
others(3): Show 
HG01261.hp1
HG02055.hp2
HG03486.hp1
NA18951.hp2
NA19007.hp2
NA19060.hp1
 intron_variant MODIFIER c.2578-6715_2578-671
others(5): Show 
c.2578-6715_2578-6714insT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678828
chr19:50678828 G
G
 GATGGGGA
others(145): Show 
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGA
 4 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
others(1): Show 
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0018t0077g0123
 4 HG02818.hp1
HG02970.hp2
HG03453.hp1
others(1): Show 
HG02818.hp1
HG02970.hp2
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.2578-6715_2578-671
others(156): Show 
c.2578-6715_2578-6714insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTTCCCA
TCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678828
chr19:50678835 G
G
 A
A
 3 a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
 3 NA18951.hp2
NA19007.hp2
NA19060.hp1
NA18951.hp2
NA19007.hp2
NA19060.hp1
 intron_variant MODIFIER c.2578-6721C>T
c.2578-6721C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678835
chr19:50678836 G
G
 A
A
 3 a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
 3 NA18951.hp2
NA19007.hp2
NA19060.hp1
NA18951.hp2
NA19007.hp2
NA19060.hp1
 intron_variant MODIFIER c.2578-6722C>T
c.2578-6722C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678836
chr19:50678842 G
G
 A
A
 100 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(97): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0004g0073
a0001c0003t0073g0071
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0004t0076g0244
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0006t0012g0088
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
a0014c0024t0078g0202
 101 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(98): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03130.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6728C>T
c.2578-6728C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678842
chr19:50678842 G
G
 GGATGATG
others(49): Show 
GGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAA
 28 a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
others(25): Show 
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0004t0004g0182
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0014t0008g0230
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0017c0036t0002g0294
 28 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(25): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02071.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02965.hp2
HG02976.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp2
NA19067.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2578-6729_2578-672
others(60): Show 
c.2578-6729_2578-6728insTTGACCCCTCCCCACACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678842
chr19:50678844 A
A
 G
G
 18 a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
others(15): Show 
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0004t0028g0274
a0001c0016t0063g0040
a0001c0018t0077g0123
a0001c0038t0094g0287
a0003c0006t0101g0301
a0007c0034t0007g0252
 18 HG01109.hp2
HG01261.hp1
HG02055.hp2
others(15): Show 
HG01109.hp2
HG01261.hp1
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03453.hp1
HG03486.hp1
HG03579.hp2
NA18951.hp2
NA19007.hp2
NA19060.hp1
 intron_variant MODIFIER c.2578-6730T>C
c.2578-6730T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678844
chr19:50678847 A
A
 ATGGGGAG
others(30): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 5 a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
others(2): Show 
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0032t0018g0185
a0002c0001t0019g0225
 5 HG02145.hp2
HG02630.hp1
HG03540.hp2
others(2): Show 
HG02145.hp2
HG02630.hp1
HG03540.hp2
HG04199.hp2
NA19043.hp1
 intron_variant MODIFIER c.2578-6734_2578-673
others(41): Show 
c.2578-6734_2578-6733insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678847
chr19:50678865 G
G
 GA
GA
 78 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(75): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0003c0006t0101g0301
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 79 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(76): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp2
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18962.hp1
NA18997.hp2
NA19009.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(5): Show 
c.2578-6752_2578-6751insT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(1352): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGG
GTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGT
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAG
GGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
GGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGAT
GATGGGGAGGGGTCAGGGGTGATGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGG
TGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGG
GTCAGGGTGA
 1 a0001c0007t0012g0077
a0001c0007t0012g0077
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(1363): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCTCCCCACACCCTGACCCCTCCC
CATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACC
CCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCC
TGACCCCTCCCATCACCCCTGACCCCTCCCCATCATCCTGACCCCTCCCC
ACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCTTTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGA
CCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGT
AATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCC
ACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCATCATC
TTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(124): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 2 a0001c0003t0081g0179
a0008c0030t0071g0072
a0001c0003t0081g0179
a0008c0030t0071g0072
 2 HG03195.hp2
HG03453.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.2578-6752_2578-675
others(135): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(1356): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGA
GGGTGATGGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GTGGGGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG
AGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGG
GGAGGGGTGAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGG
TCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTC
AGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGA
 1 a0001c0003t0022g0075
a0001c0003t0022g0075
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(1367): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCA
TCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTCACCCCTCCCCACACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCAT
CTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCC
CTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCTTTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCACCCCTTACC
TGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCC
CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(543): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGA
GGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
A
 1 a0001c0003t0022g0243
a0001c0003t0022g0243
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2578-6752_2578-675
others(554): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA
ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCC
CTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCT
CCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(1374): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGA
GGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAAAGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGG
TGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAG
CATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGA
GGGGTCAGTGTGATGGAGAGGGGTCAGGGTGA
 1 a0001c0007t0042g0015
a0001c0007t0042g0015
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.2578-6752_2578-675
others(1385): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCC
CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCTTTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCA
TCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACC
CCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(1374): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGA
GGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAAAGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGAGTGTGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGG
TGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAG
CATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGA
GGGGTCAGTGTGATGGAGAGGGGTCAGGGTGA
 1 a0001c0007t0070g0047
a0001c0007t0070g0047
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(1385): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCACACTCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCC
CCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCC
CTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCTTTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCA
TCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACC
CCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(1373): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGA
GGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAAAGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGT
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGC
ATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAG
GGGTCAGTGTGATGGAGAGGGGTCAGGGTGA
 1 a0001c0007t0008g0237
a0001c0007t0008g0237
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(1384): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCC
CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCTTTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCAT
CACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCC
CCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCT
TGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCC
CCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(1411): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGA
GGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAAAGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGT
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGC
ATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAG
GGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGA
 1 a0001c0004t0007g0063
a0001c0004t0007g0063
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.2578-6752_2578-675
others(1422): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA
ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCA
CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACC
CCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCTTT
CCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT
CACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC
TTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCC
CTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(674): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGA
GGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0001c0019t0020g0235
a0001c0019t0020g0235
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(685): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCA
TCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACC
CCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(544): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GA
 1 a0001c0003t0012g0051
a0001c0003t0012g0051
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(555): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA
TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA
ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCA
CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACC
CCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCC
TCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(544): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GA
 6 a0001c0003t0011g0050
a0001c0003t0025g0012
a0001c0003t0066g0043
others(3): Show 
a0001c0003t0011g0050
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0090g0067
a0001c0007t0007g0216
a0001c0013t0024g0122
 6 HG02145.hp1
HG02896.hp2
HG02970.hp1
others(3): Show 
HG02145.hp1
HG02896.hp2
HG02970.hp1
HG03130.hp2
HG03225.hp1
NA19030.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(555): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA
ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCA
CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACC
CCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCC
TCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(563): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGA
 6 a0001c0003t0004g0079
a0001c0003t0017g0086
a0001c0003t0074g0124
others(3): Show 
a0001c0003t0004g0079
a0001c0003t0017g0086
a0001c0003t0074g0124
a0001c0013t0024g0136
a0009c0025t0004g0282
a0012c0026t0060g0038
 6 HG02055.hp1
HG02622.hp1
HG02647.hp2
others(3): Show 
HG02055.hp1
HG02622.hp1
HG02647.hp2
HG02886.hp1
HG03516.hp2
NA19240.hp2
 intron_variant MODIFIER c.2578-6752_2578-675
others(574): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC
CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCC
CCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(582): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0008g0231
a0001c0003t0008g0231
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(593): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC
CCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT
TCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCT
GACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(582): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0004g0191
a0001c0003t0004g0191
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(593): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC
CCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT
TCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCT
GACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(507): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGGGTGTGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTG
ATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGA
 1 a0001c0003t0003g0253
a0001c0003t0003g0253
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(518): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC
CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCC
CCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(516): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT
CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA
GTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0039t0006g0107
a0001c0039t0006g0107
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(527): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
TCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTC
TCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTG
ACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGAC
CCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(269): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT
CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA
GTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAAGATGA
 1 a0001c0002t0041g0016
a0001c0002t0041g0016
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(280): Show 
c.2578-6752_2578-6751insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCC
CTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACA
CTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCT
GACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GATGGGGA
others(879): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGA
GGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCA
GGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGT
GTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0004t0008g0049
a0001c0004t0008g0049
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(890): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCC
CTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAAT
GCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GTGGGAGG
others(359): Show 
GTGGGAGGGGTCAGGGTGATGGGGAGGGGGTCAGGGTGTGGGGAGGGGGT
CAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGTCAGGGTGAT
GGGGAGGGTCAGGGTGTGGGGAGGGGTCAGGGTGGTGGGGAGGGGTCAGG
GTGATGGGAAGGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGG
TGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGG
GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAAGATGA
 1 a0002c0008t0003g0205
a0002c0008t0003g0205
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.2578-6752_2578-675
others(370): Show 
c.2578-6752_2578-6751insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC
CTTACCTGTAATGCTTGTAACCCTGACCCCCTTCCCATCACCCTGACCCC
TCCCCACCACCCTGACCCCTCCCCACACCCTGACCCTCCCCATCACCCTG
ACCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCAC
CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCCTCC
CCACACCCTGACCCCCTCCCCATCACCCTGACCCCTCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678865 G
G
 GTGGGGAG
others(341): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT
AAGGGGTGAGGGTGATGGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGG
GTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
 1 a0002c0008t0013g0207
a0002c0008t0013g0207
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.2578-6752_2578-675
others(352): Show 
c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACAC
CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC
TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC
CCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678865
chr19:50678879 G
G
 A
A
 5 a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
others(2): Show 
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
a0001c0038t0094g0287
a0003c0006t0101g0301
 5 HG02055.hp2
HG03486.hp1
NA18951.hp2
others(2): Show 
HG02055.hp2
HG03486.hp1
NA18951.hp2
NA19007.hp2
NA19060.hp1
 intron_variant MODIFIER c.2578-6765C>T
c.2578-6765C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678879
chr19:50678881 G
G
 A
A
 11 a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
others(8): Show 
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0016t0063g0040
a0001c0032t0018g0185
a0001c0038t0094g0287
a0002c0001t0019g0225
a0003c0006t0101g0301
 11 HG01261.hp1
HG02055.hp2
HG02145.hp2
others(8): Show 
HG01261.hp1
HG02055.hp2
HG02145.hp2
HG02630.hp1
HG03486.hp1
HG03540.hp2
HG04199.hp2
NA18951.hp2
NA19007.hp2
NA19043.hp1
NA19060.hp1
 intron_variant MODIFIER c.2578-6767C>T
c.2578-6767C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678881
chr19:50678883 GA
GA
 G
G
 88 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(85): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0008g0231
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0028g0274
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0007c0034t0007g0252
a0008c0030t0071g0072
a0010c0029t0001g0204
a0013c0027t0011g0228
 89 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18962.hp1
NA18997.hp2
NA19009.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6770delT
c.2578-6770delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678883
chr19:50678884 A
A
 ATGGGGAG
others(11): Show 
ATGGGGAGGGGTCAGGGTG
 1 a0018c0037t0005g0120
a0018c0037t0005g0120
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.2578-6788_2578-677
others(22): Show 
c.2578-6788_2578-6771dupCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678884
chr19:50678902 G
G
 GA
GA
 34 a0001c0002t0001g0118
a0001c0002t0005g0161
a0001c0002t0005g0257
others(31): Show 
a0001c0002t0001g0118
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0015g0114
a0001c0002t0033g0302
a0001c0002t0037g0006
a0001c0002t0041g0016
a0001c0002t0051g0026
a0001c0002t0057g0033
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0022g0075
a0001c0003t0066g0043
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0018t0003g0126
a0001c0019t0020g0235
a0001c0032t0018g0185
a0001c0039t0006g0107
a0002c0001t0019g0225
a0002c0001t0047g0024
a0002c0008t0003g0205
a0002c0008t0013g0207
a0003c0006t0101g0301
a0013c0027t0011g0228
 34 HG00423.hp1
HG01074.hp2
HG01109.hp1
others(31): Show 
HG00423.hp1
HG01074.hp2
HG01109.hp1
HG01192.hp1
HG01358.hp1
HG01891.hp2
HG01993.hp2
HG02055.hp2
HG02145.hp1
HG02145.hp2
HG02523.hp2
HG02572.hp1
HG02630.hp1
HG02738.hp1
HG02809.hp1
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18951.hp2
NA18964.hp1
NA19005.hp2
NA19007.hp2
NA19043.hp1
NA19060.hp1
NA19090.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(5): Show 
c.2578-6789_2578-6788insT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(100): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGT
CAGTGTGA
 1 a0001c0002t0016g0112
a0001c0002t0016g0112
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(111): Show 
c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCACCCCTTACC
TGTAATGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(157): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGT
CAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGA
 1 a0001c0002t0100g0300
a0001c0002t0100g0300
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(168): Show 
c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCACC
CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(195): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGT
CAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGA
GAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA
TGA
 1 a0001c0002t0003g0060
a0001c0002t0003g0060
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.2578-6789_2578-678
others(206): Show 
c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCC
CTCTCCATCACACTGACACCCCCCCCATCACCCTCACCCCTTACCTGTAA
TGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(80): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGA
 1 a0001c0002t0001g0093
a0001c0002t0001g0093
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2578-6789_2578-678
others(91): Show 
c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT
GACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGA
CCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(99): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGTGTGA
 4 a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0009g0099
others(1): Show 
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0009g0099
a0001c0002t0009g0171
 4 HG00639.hp2
HG02129.hp1
HG02523.hp1
others(1): Show 
HG00639.hp2
HG02129.hp1
HG02523.hp1
NA20752.hp2
 intron_variant MODIFIER c.2578-6789_2578-678
others(110): Show 
c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(289): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGTGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGA
 1 a0001c0002t0083g0229
a0001c0002t0083g0229
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(300): Show 
c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACC
CTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTC
CATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTG
TAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(118): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGTGTGATGGAGAGGGGTCAGTGTGA
 53 a0001c0002t0001g0091
a0001c0002t0001g0096
a0001c0002t0001g0173
others(50): Show 
a0001c0002t0001g0091
a0001c0002t0001g0096
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0131
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0052g0025
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
 54 HG00140.hp2
HG00408.hp2
HG00438.hp2
others(51): Show 
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01257.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18962.hp1
NA18997.hp2
NA19009.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(129): Show 
c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCA
TCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(175): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
 4 a0001c0002t0001g0139
a0001c0002t0009g0175
a0001c0002t0009g0194
others(1): Show 
a0001c0002t0001g0139
a0001c0002t0009g0175
a0001c0002t0009g0194
a0010c0029t0001g0204
 4 HG01981.hp1
HG02074.hp2
HG03654.hp1
others(1): Show 
HG01981.hp1
HG02074.hp2
HG03654.hp1
HG03831.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(186): Show 
c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC
CCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT
TCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(194): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT
GA
 3 a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0021t0006g0102
a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0021t0006g0102
 3 HG00140.hp1
HG01175.hp1
NA20805.hp2
HG00140.hp1
HG01175.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-6789_2578-678
others(205): Show 
c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCC
CTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAAT
GCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGAA
others(118): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTC
AGTGTGATGGAGAGGGGTCAGTGTGA
 1 a0001c0002t0001g0119
a0001c0002t0001g0119
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(129): Show 
c.2578-6789_2578-6788insTCACACTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACCCCTCCCCATCACACTGACACCCCCCCA
TCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGGA
others(262): Show 
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
GTCAGGGTGATGGGGAGGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGGAGGGGTCAGGGTGATGGGGTAGGGGT
CAGTGTGATGGAGAGGGTCAGGGTGATGGGGAGGGGGTCAGGTGATGGGG
AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGAGGGGTCAGGGTGA
 1 a0001c0002t0001g0203
a0001c0002t0001g0203
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.2578-6789_2578-678
others(273): Show 
c.2578-6789_2578-6788insTCACCCTGACCCCTCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCTGACCCCCTCCCCATCACCCTGACCCTCTCCATCACACTGACCCCT
ACCCCATCACCCTGACCCCTCCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCCTCCCCATCACCCTGACCCCCTC
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGGA
others(165): Show 
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGT
GTGATGGAGAGGGGTCAGGGTGA
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(176): Show 
c.2578-6789_2578-6788insTCACCCTGACCCCTCTCCATCACACT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGGA
others(564): Show 
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGT
GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGTGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA
TGATGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0038g0005
a0002c0001t0038g0005
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(575): Show 
c.2578-6789_2578-6788insTCACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACACTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGGA
others(602): Show 
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGT
GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGTGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAAGATGA
 5 a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0019g0272
others(2): Show 
a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0019g0272
a0001c0015t0027g0028
a0014c0024t0078g0202
 5 NA18960.hp2
NA18974.hp2
NA18998.hp1
others(2): Show 
NA18960.hp2
NA18974.hp2
NA18998.hp1
NA19056.hp1
NA19090.hp2
 intron_variant MODIFIER c.2578-6789_2578-678
others(613): Show 
c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACACTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTC
CATCACACTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCATCTTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GATGGGGA
others(564): Show 
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGG
GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGA
 3 a0001c0002t0002g0218
a0001c0002t0053g0030
a0001c0040t0005g0206
a0001c0002t0002g0218
a0001c0002t0053g0030
a0001c0040t0005g0206
 3 NA18986.hp1
NA19009.hp2
NA19089.hp1
NA18986.hp1
NA19009.hp2
NA19089.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(575): Show 
c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678902 G
G
 GTGGGGAG
others(341): Show 
GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGAT
GGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGG
GGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAG
ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0027g0029
a0002c0001t0027g0029
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.2578-6789_2578-678
others(352): Show 
c.2578-6789_2578-6788insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAAT
GCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCC
CCATCATCTTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678902
chr19:50678906 G
G
 A
A
 61 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(58): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
 62 HG00140.hp2
HG00408.hp2
HG00438.hp2
others(59): Show 
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01257.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18962.hp1
NA18997.hp2
NA19009.hp1
NA20129.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6792C>T
c.2578-6792C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678906
chr19:50678907 G
G
 A
A
 7 a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
others(4): Show 
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 7 HG01074.hp2
HG01358.hp1
HG01993.hp2
others(4): Show 
HG01074.hp2
HG01358.hp1
HG01993.hp2
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6793C>T
c.2578-6793C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678907
chr19:50678916 G
G
 A
A
 4 a0001c0002t0001g0118
a0001c0002t0015g0114
a0001c0002t0057g0033
others(1): Show 
a0001c0002t0001g0118
a0001c0002t0015g0114
a0001c0002t0057g0033
a0002c0008t0013g0207
 4 HG00423.hp1
NA18964.hp1
NA19005.hp2
others(1): Show 
HG00423.hp1
NA18964.hp1
NA19005.hp2
NA19090.hp1
 intron_variant MODIFIER c.2578-6802C>T
c.2578-6802C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678916
chr19:50678918 G
G
 A
A
 4 a0001c0002t0001g0118
a0001c0002t0015g0114
a0001c0002t0057g0033
others(1): Show 
a0001c0002t0001g0118
a0001c0002t0015g0114
a0001c0002t0057g0033
a0002c0008t0013g0207
 4 HG00423.hp1
NA18964.hp1
NA19005.hp2
others(1): Show 
HG00423.hp1
NA18964.hp1
NA19005.hp2
NA19090.hp1
 intron_variant MODIFIER c.2578-6804C>T
c.2578-6804C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678918
chr19:50678919 T
T
 TTACAAGC
others(23): Show 
TTACAAGCATTACAGGTAAGGGGTGAGGGTG
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2578-6806_2578-680
others(34): Show 
c.2578-6806_2578-6805insCACCCTCACCCCTTACCTGTAATGCT
TGTA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678919
chr19:50678919 T
T
 TTACAAGC
others(61): Show 
TTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTG
ATGGAGAGGGGTCAGTGTG
 1 a0001c0002t0009g0223
a0001c0002t0009g0223
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.2578-6806_2578-680
others(72): Show 
c.2578-6806_2578-6805insCACACTGACCCCTCTCCATCACACTG
ACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678919
chr19:50678919 T
T
 TTACAAGC
others(80): Show 
TTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTG
ATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTG
 5 a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
others(2): Show 
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 5 HG01074.hp2
HG01358.hp1
HG02738.hp1
others(2): Show 
HG01074.hp2
HG01358.hp1
HG02738.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6806_2578-680
others(91): Show 
c.2578-6806_2578-6805insCACACTGACCCCTCTCCATCACACTG
ACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTG
TAATGCTTGTA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678919
chr19:50678920 G
G
 A
A
 7 a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
others(4): Show 
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 7 HG01074.hp2
HG01358.hp1
HG01993.hp2
others(4): Show 
HG01074.hp2
HG01358.hp1
HG01993.hp2
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6806C>T
c.2578-6806C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GA
GA
 109 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(106): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0090g0067
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0007t0007g0216
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0040t0005g0206
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0056g0032
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0003c0006t0101g0301
a0004c0017t0001g0001
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0014c0024t0078g0202
 110 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(107): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02970.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG04228.hp1
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6807_2578-680
others(5): Show 
c.2578-6807_2578-6806insT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GATGGGGA
others(307): Show 
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA
GTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGA
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2578-6807_2578-680
others(318): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCC
CATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GATGGGGA
others(1369): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT
CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGGTGTC
AGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGG
AGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGG
GTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGT
GAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGG
GTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTA
AGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TGAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGG
GTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGT
CAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAAGATGATGGAGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTA
CAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0064g0044
a0001c0003t0064g0044
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.2578-6807_2578-680
others(1380): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCTCCATCATCTTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACT
GACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGA
CCCCTTCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTC
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC
TTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCT
CACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGA
CCCCTTCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
TCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACAC
TGACACCCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCT
GACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GATGGGGA
others(563): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT
CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA
GTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGA
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0099g0308
a0001c0003t0099g0308
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2578-6807_2578-680
others(574): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC
CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT
TCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA
CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC
TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GATGGGGA
others(1787): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT
CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA
GTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGA
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAA
GGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGG
GAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAA
GGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGG
GAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAA
GGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
GAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGGG
TCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTC
AGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAAGATGATGGAGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGG
TCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTC
AGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0010g0284
a0001c0003t0010g0284
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.2578-6807_2578-680
others(1798): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCATCTTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCTTCACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACACC
CCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTT
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACACC
CCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTT
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACACC
CCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTT
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACT
GACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGA
CCCCTTCCCATCACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCTCCATCATCTTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACC
TGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GATGGGGA
others(1368): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT
CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA
GTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGA
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAA
GGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
GAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGGG
TCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTC
AGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAAGATGATGGAGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTAC
AGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGA
 2 a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0010g0172
a0001c0003t0025g0008
 2 HG02109.hp2
HG02723.hp1
HG02109.hp2
HG02723.hp1
 intron_variant MODIFIER c.2578-6807_2578-680
others(1379): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCTCCATCATCTTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACT
GACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGA
CCCCTTCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTC
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC
TTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCT
CACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGA
CCCCTTCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
TCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACAC
TGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTG
ACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GATGGGGA
others(1256): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAAAGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGTGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
GGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAACAT
TACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGG
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAAC
ATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAG
GGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGA
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2578-6807_2578-680
others(1267): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACA
CTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGTTTGTAACCCT
GACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCCTCCCCATCACCCTGACCC
CTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCTCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCA
CACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGTTTGTAACC
CTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACC
CCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCAC
CCTGACCCCTCTCCATCACACTGACCCCTCCCCACACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACC
CCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCC
TGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCCTGACCCCTCCCC
ACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCC
TGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GTGGGGAG
others(383): Show 
GTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACA
GGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCA
GGGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
 1 a0001c0018t0077g0123
a0001c0018t0077g0123
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2578-6807_2578-680
others(394): Show 
c.2578-6807_2578-6806insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACCCTGAC
CCCTCTCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCA
CCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACC
CTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GTGGGGAG
others(402): Show 
GTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACA
GGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCA
GGGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGA
 1 a0001c0003t0012g0068
a0001c0003t0012g0068
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2578-6807_2578-680
others(413): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCATCTTGACCCCTCCCCATCATCTTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCTCCATCACCCTGACCCCTCTCCATCACCCTGACCCCTCTCCATCA
CACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACC
CTGACCCCTTCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GTGGGGAG
others(383): Show 
GTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACA
GGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCA
GGGTGATGGAGAGGGGTCAGGGTGATGGAGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 2 a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0023g0239
a0001c0003t0023g0240
 2 HG03453.hp1
HG03579.hp2
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.2578-6807_2578-680
others(394): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACCCTGAC
CCCTCTCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCA
CCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACC
CTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GTGGGGAG
others(155): Show 
GTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACA
GGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCA
GTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGA
GGGGTCAGGGTGA
 3 a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0033g0302
 3 NA18951.hp2
NA19007.hp2
NA19060.hp1
NA18951.hp2
NA19007.hp2
NA19060.hp1
 intron_variant MODIFIER c.2578-6807_2578-680
others(166): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCTCCATCACACT
GACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA
ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678920 G
G
 GTGGGGAG
others(268): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAG
GGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AAGATGATGGGGAGGGGTCAGGGTGA
 1 a0001c0004t0028g0274
a0001c0004t0028g0274
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2578-6807_2578-680
others(279): Show 
c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACC
CTGACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678920
chr19:50678924 G
G
 A
A
 7 a0001c0002t0009g0223
a0001c0002t0016g0112
a0001c0002t0037g0006
others(4): Show 
a0001c0002t0009g0223
a0001c0002t0016g0112
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 7 HG01074.hp2
HG01358.hp1
HG02027.hp1
others(4): Show 
HG01074.hp2
HG01358.hp1
HG02027.hp1
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6810C>T
c.2578-6810C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678924
chr19:50678926 A
A
 G
G
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2578-6812T>C
c.2578-6812T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678926
chr19:50678929 G
G
 T
T
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2578-6815C>A
c.2578-6815C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678929
chr19:50678934 A
A
 G
G
 65 a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
others(62): Show 
a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0060
a0001c0002t0005g0116
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0100g0300
a0001c0002t0105g0304
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0040t0005g0206
a0002c0001t0047g0024
a0002c0008t0013g0207
a0003c0006t0012g0088
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
 65 HG00140.hp1
HG00423.hp1
HG01074.hp2
others(62): Show 
HG00140.hp1
HG00423.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01358.hp1
HG01884.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-6820T>C
c.2578-6820T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678934
chr19:50678935 G
G
 T
T
 7 a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
others(4): Show 
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 7 HG01074.hp2
HG01358.hp1
HG01993.hp2
others(4): Show 
HG01074.hp2
HG01358.hp1
HG01993.hp2
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6821C>A
c.2578-6821C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678935
chr19:50678936 A
A
 ATGATGGG
others(378): Show 
ATGATGGGGAGGGGTCAGGGTGAGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTT
ACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGAT
GGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG
 1 a0002c0001t0001g0193
a0002c0001t0001g0193
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.2578-6823_2578-682
others(389): Show 
c.2578-6823_2578-6822insCCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG
ACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTG
TAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCTCACCCTGACCCC
TCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678936
chr19:50678936 A
A
 ATGATGGG
others(341): Show 
ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGT
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTC
AAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG
 1 a0001c0004t0026g0013
a0001c0004t0026g0013
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2578-6823_2578-682
others(352): Show 
c.2578-6823_2578-6822insCCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTC
TCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCT
TGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACC
CCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCC
TGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678936
chr19:50678936 A
A
 ATGATGGG
others(974): Show 
ATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGG
GAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAA
GCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAG
AGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
 1 a0002c0001t0019g0225
a0002c0001t0019g0225
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2578-6823_2578-682
others(985): Show 
c.2578-6823_2578-6822insCCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCAC
CCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTG
ACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTG
TAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCC
CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT
TGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCC
CATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678936
chr19:50678936 A
A
 G
G
 62 a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
others(59): Show 
a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0060
a0001c0002t0005g0116
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0100g0300
a0001c0002t0105g0304
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0090g0067
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0027g0028
a0001c0016t0072g0069
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0040t0005g0206
a0002c0001t0047g0024
a0002c0008t0013g0207
a0003c0006t0012g0088
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
 62 HG00140.hp1
HG00423.hp1
HG01074.hp2
others(59): Show 
HG00140.hp1
HG00423.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01358.hp1
HG01884.hp1
HG01981.hp1
HG01993.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.2578-6822T>C
c.2578-6822T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678936
chr19:50678938 GA
GA
 G
G
 18 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(15): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0025g0012
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0090g0067
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0016t0072g0069
a0003c0006t0012g0088
a0009c0025t0004g0282
a0012c0026t0060g0038
 18 HG01243.hp2
HG01884.hp1
HG02055.hp1
others(15): Show 
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02622.hp1
HG02647.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03516.hp1
HG03516.hp2
NA18906.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.2578-6825delT
c.2578-6825delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678938
chr19:50678939 A
A
 ATGGGGAG
others(565): Show 
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGT
GATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAG
ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTG
 1 a0001c0003t0075g0289
a0001c0003t0075g0289
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.2578-6826_2578-682
others(576): Show 
c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACC
CTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678939
chr19:50678939 A
A
 ATGGGGAG
others(527): Show 
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGG
GTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGT
GATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0001c0003t0023g0078
a0001c0003t0023g0078
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.2578-6826_2578-682
others(538): Show 
c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCC
CTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAAT
GCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCC
CCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACC
CCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678939
chr19:50678939 A
A
 ATGGGGAG
others(546): Show 
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGG
GTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGT
GATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTG
 20 a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0082g0083
others(17): Show 
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0082g0083
a0001c0004t0004g0182
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0017c0036t0002g0294
 20 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(17): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG02040.hp1
HG02071.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02965.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp2
NA19067.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2578-6826_2578-682
others(557): Show 
c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACC
CTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678939
chr19:50678939 A
A
 ATGGGGAG
others(527): Show 
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGG
GTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGT
GATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 2 a0001c0004t0028g0234
a0003c0005t0014g0220
a0001c0004t0028g0234
a0003c0005t0014g0220
 2 HG02976.hp1
HG04228.hp2
HG02976.hp1
HG04228.hp2
 intron_variant MODIFIER c.2578-6826_2578-682
others(538): Show 
c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCC
CTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAAT
GCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCC
CCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACC
CCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678939
chr19:50678939 A
A
 ATGGGGAG
others(955): Show 
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
GGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGT
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTG
 4 a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
others(1): Show 
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0032t0018g0185
 4 HG02145.hp2
HG02630.hp1
HG03540.hp2
others(1): Show 
HG02145.hp2
HG02630.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.2578-6826_2578-682
others(966): Show 
c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACA
CTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCT
GACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCC
CACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCC
CTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCT
TGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678939
chr19:50678943 G
G
 A
A
 7 a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
others(4): Show 
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 7 HG01074.hp2
HG01358.hp1
HG01993.hp2
others(4): Show 
HG01074.hp2
HG01358.hp1
HG01993.hp2
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6829C>T
c.2578-6829C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678943
chr19:50678953 G
G
 A
A
 9 a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
others(6): Show 
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0002t0003g0060
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0100g0300
a0001c0021t0006g0102
a0010c0029t0001g0204
 9 HG00140.hp1
HG01175.hp1
HG01255.hp2
others(6): Show 
HG00140.hp1
HG01175.hp1
HG01255.hp2
HG01981.hp1
HG02074.hp2
HG03654.hp1
HG03669.hp1
HG03831.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-6839C>T
c.2578-6839C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678953
chr19:50678954 G
G
 T
T
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2578-6840C>A
c.2578-6840C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678954
chr19:50678955 G
G
 A
A
 9 a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
others(6): Show 
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0002t0003g0060
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0100g0300
a0001c0021t0006g0102
a0010c0029t0001g0204
 9 HG00140.hp1
HG01175.hp1
HG01255.hp2
others(6): Show 
HG00140.hp1
HG01175.hp1
HG01255.hp2
HG01981.hp1
HG02074.hp2
HG03654.hp1
HG03669.hp1
HG03831.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-6841C>T
c.2578-6841C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678955
chr19:50678957 G
G
 GTGGGGAG
others(620): Show 
GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT
AAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTG
TGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGT
 4 a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
others(1): Show 
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
 4 HG01891.hp1
HG02451.hp2
HG02486.hp2
others(1): Show 
HG01891.hp1
HG02451.hp2
HG02486.hp2
HG06807.hp1
 intron_variant MODIFIER c.2578-6844_2578-684
others(631): Show 
c.2578-6844_2578-6843insACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCC
CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT
CACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC
TTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678957
chr19:50678958 A
A
 AGGGGAGG
others(396): Show 
AGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGG
GTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGT
GAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTG
 2 a0002c0001t0055g0034
a0015c0033t0002g0186
a0002c0001t0055g0034
a0015c0033t0002g0186
 2 HG01952.hp2
HG02004.hp1
HG01952.hp2
HG02004.hp1
 intron_variant MODIFIER c.2578-6845_2578-684
others(407): Show 
c.2578-6845_2578-6844insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCC
ATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGT
AACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCACACCCTGACCCCTCCCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678958
chr19:50678958 A
A
 ATGGGGAG
others(436): Show 
ATGGGGAGGGGTCAGGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGG
GTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATG
GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0002c0001t0065g0042
a0002c0001t0065g0042
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2578-6845_2578-684
others(447): Show 
c.2578-6845_2578-6844insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA
CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC
TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA
CCCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678958
chr19:50678958 A
A
 G
G
 4 a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
others(1): Show 
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
 4 HG01891.hp1
HG02451.hp2
HG02486.hp2
others(1): Show 
HG01891.hp1
HG02451.hp2
HG02486.hp2
HG06807.hp1
 intron_variant MODIFIER c.2578-6844T>C
c.2578-6844T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678958
chr19:50678962 G
G
 A
A
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2578-6848C>T
c.2578-6848C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678962
chr19:50678972 G
G
 A
A
 6 a0001c0002t0009g0223
a0001c0002t0037g0006
a0001c0002t0051g0026
others(3): Show 
a0001c0002t0009g0223
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 6 HG01074.hp2
HG01358.hp1
HG02738.hp1
others(3): Show 
HG01074.hp2
HG01358.hp1
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6858C>T
c.2578-6858C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678972
chr19:50678973 G
G
 T
T
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2578-6859C>A
c.2578-6859C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678973
chr19:50678974 G
G
 A
A
 6 a0001c0002t0009g0223
a0001c0002t0037g0006
a0001c0002t0051g0026
others(3): Show 
a0001c0002t0009g0223
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0105g0304
a0002c0001t0047g0024
a0013c0027t0011g0228
 6 HG01074.hp2
HG01358.hp1
HG02738.hp1
others(3): Show 
HG01074.hp2
HG01358.hp1
HG02738.hp1
HG03704.hp1
HG04184.hp2
HG04204.hp1
 intron_variant MODIFIER c.2578-6860C>T
c.2578-6860C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678974
chr19:50678976 G
G
 GA
GA
 161 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(158): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0007g0065
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0040t0005g0206
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0055g0034
a0002c0001t0056g0032
a0002c0001t0065g0042
a0002c0001t0087g0095
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0017c0036t0002g0294
 162 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(5): Show 
c.2578-6863_2578-6862insT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GATGGGGA
others(164): Show 
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAAGATGA
 1 a0001c0003t0001g0059
a0001c0003t0001g0059
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(175): Show 
c.2578-6863_2578-6862insTCATCTTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GATGGGGA
others(521): Show 
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGG
GTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAAGATGA
 2 a0001c0003t0004g0073
a0001c0018t0003g0126
a0001c0003t0004g0073
a0001c0018t0003g0126
 2 HG01891.hp2
NA19240.hp1
HG01891.hp2
NA19240.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(532): Show 
c.2578-6863_2578-6862insTCATCTTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
AT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GATGGGGA
others(50): Show 
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGA
 1 a0003c0006t0101g0301
a0003c0006t0101g0301
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(61): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GATGGGGA
others(342): Show 
GATGGGGAGGGGTCAGGGTGATGGGGATGGGGTCAGTGTGATGGAGAGGG
GTCAGGGTGATGGGGAGGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGTCAGTGTGATGGGAGGGGTCAGGGTGATGGGGGAAGGGGGTC
AGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GGTCAGGGTGATGGGGAGGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0002t0001g0203
a0001c0002t0001g0203
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(353): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCATCACCCT
GACCCCCTCCCCATCACCCTGACCCCCTCCCCATCACCCTGACCCCTCCC
CATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCCTCTCCATC
ACACTGACCCCTCCCCATCACCCTGACCCCCTTCCCCCATCACCCTGACC
CCTCCCATCACACTGACCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCATCC
CCATCACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GATGGGGA
others(31): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 2 a0002c0001t0027g0029
a0002c0008t0003g0205
a0002c0001t0027g0029
a0002c0008t0003g0205
 2 HG02523.hp2
HG03927.hp1
HG02523.hp2
HG03927.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(42): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(303): Show 
GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGG
TAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGT
GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGA
 2 a0001c0003t0081g0179
a0008c0030t0071g0072
a0001c0003t0081g0179
a0008c0030t0071g0072
 2 HG03195.hp2
HG03453.hp2
HG03195.hp2
HG03453.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(314): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCA
TCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTA
ACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCA
CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(472): Show 
GTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGG
TAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGT
GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0007c0034t0007g0252
a0007c0034t0007g0252
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(483): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA
TCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC
CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCC
CCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(438): Show 
GTGGGGAGGGGTCAGGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAA
GGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGG
GTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0008g0055
a0002c0001t0008g0055
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(449): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACC
CCTCTCCATCACACTGACACCCCCCCCATCACCCTCACCCCTTACCTGTA
ATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCC
TGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
CACCCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(12): Show 
GTGGGGAGGGGTCAGGGTGA
 2 a0002c0001t0001g0193
a0002c0008t0013g0207
a0002c0001t0001g0193
a0002c0008t0013g0207
 2 HG02004.hp2
NA19090.hp1
HG02004.hp2
NA19090.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(23): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(472): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT
AAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0018c0037t0005g0120
a0018c0037t0005g0120
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(483): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC
CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCC
CCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(969): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAA
GGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGG
GTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAG
GGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGGTGTCAGT
GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGG
GGTCAGGGTGTGGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTAC
AAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGGTGTCAGTGTGATG
GAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTA
CAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGTGGTCAGGGTGTGGGG
AGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAG
GGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGA
TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0061g0039
a0002c0001t0061g0039
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(980): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC
CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC
TCCCCACACCCTGACCACCTCCCCACACCCTGACCCCTCCCCATCACCCT
GACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCT
GTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCT
CCATCACACTGACACCCCCCCCATCACCCTCACCCCTTACCTGTAATGCT
TGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCCACACCCTGAC
CCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCA
CACTGACACCCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAAC
CCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCC
CACACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA
CCCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCC
CTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCCTCCCCACACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(528): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTA
CAGGTAAGGGGTGAGGGTGATGGGGGGGGTGTCAGTGTGATGGAGAGGGG
TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0005c0022t0001g0092
a0005c0022t0001g0092
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(539): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCAC
CCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCC
CTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(399): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGG
TGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGA
 3 a0002c0001t0005g0169
a0002c0001t0008g0266
a0002c0001t0021g0017
a0002c0001t0005g0169
a0002c0001t0008g0266
a0002c0001t0021g0017
 3 HG00738.hp2
HG01257.hp2
HG02071.hp1
HG00738.hp2
HG01257.hp2
HG02071.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(410): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCAC
CCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCC
CTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(455): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGA
GGGGTCAGGGTGA
 1 a0002c0001t0069g0045
a0002c0001t0069g0045
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(466): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACC
CCTCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCAC
CCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCC
TGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(379): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0049g0023
a0002c0001t0049g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(390): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCC
ATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGT
AACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(493): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
A
 2 a0002c0001t0005g0110
a0002c0001t0054g0031
a0002c0001t0005g0110
a0002c0001t0054g0031
 2 HG03710.hp1
HG03942.hp1
HG03710.hp1
HG03942.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(504): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACC
CCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCAC
CCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTA
CCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCC
ACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(398): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGGTGA
 67 a0001c0002t0001g0168
a0001c0002t0001g0261
a0001c0002t0109g0312
others(64): Show 
a0001c0002t0001g0168
a0001c0002t0001g0261
a0001c0002t0109g0312
a0001c0003t0002g0153
a0001c0003t0035g0003
a0001c0003t0036g0004
a0001c0012t0006g0103
a0002c0001t0001g0111
a0002c0001t0001g0137
a0002c0001t0002g0113
a0002c0001t0002g0145
a0002c0001t0002g0155
a0002c0001t0002g0159
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0003g0160
a0002c0001t0005g0090
a0002c0001t0005g0144
a0002c0001t0005g0192
a0002c0001t0005g0213
a0002c0001t0005g0219
a0002c0001t0008g0265
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0017g0133
a0002c0001t0018g0167
a0002c0001t0018g0262
a0002c0001t0019g0165
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0029g0162
a0002c0001t0032g0154
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0048g0022
a0002c0001t0058g0035
a0002c0001t0059g0036
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0093g0156
a0002c0001t0098g0299
a0002c0001t0106g0311
a0002c0001t0107g0305
a0002c0008t0017g0208
a0002c0008t0067g0046
a0002c0008t0097g0298
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0016g0166
a0003c0005t0032g0163
 67 HG00438.hp1
HG00544.hp2
HG00597.hp1
others(64): Show 
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00741.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02165.hp1
HG02165.hp2
HG02735.hp1
HG03017.hp2
HG03704.hp2
HG03834.hp2
HG03942.hp2
HG04199.hp1
NA18612.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18960.hp1
NA18962.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18986.hp2
NA18997.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp2
NA19007.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19056.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp2
NA20752.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(409): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC
CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(529): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0002g0094
a0002c0001t0002g0094
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(540): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCC
ATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGT
AACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(896): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGT
GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGG
GTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGT
CAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGA
 1 a0002c0001t0002g0296
a0002c0001t0002g0296
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(907): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC
CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
CACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC
TTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(304): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGA
 3 a0001c0003t0004g0224
a0001c0003t0044g0010
a0003c0006t0108g0309
a0001c0003t0004g0224
a0001c0003t0044g0010
a0003c0006t0108g0309
 3 HG01099.hp1
HG01255.hp1
HG04204.hp2
HG01099.hp1
HG01255.hp1
HG04204.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(315): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCC
CTCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACC
CTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(417): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0003c0006t0006g0283
a0003c0006t0006g0283
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(428): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA
CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC
TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(436): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 7 a0001c0009t0004g0249
a0002c0001t0007g0221
a0002c0001t0008g0288
others(4): Show 
a0001c0009t0004g0249
a0002c0001t0007g0221
a0002c0001t0008g0288
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0024g0247
a0003c0006t0001g0248
 7 HG01981.hp2
HG03098.hp2
HG03486.hp2
others(4): Show 
HG01981.hp2
HG03098.hp2
HG03486.hp2
NA18906.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(447): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACC
CCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAA
TGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCT
GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(417): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.2578-6863_2578-686
others(428): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA
CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC
TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(632): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAG
CATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGA
GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0003g0148
a0002c0001t0003g0148
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(643): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC
CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTC
TCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCT
TGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACC
CCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCC
TGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678976 G
G
 GTGGGGAG
others(680): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG
GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT
GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGG
TTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTG
ATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0002g0151
a0002c0001t0002g0151
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.2578-6863_2578-686
others(691): Show 
c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC
CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTG
TAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACAC
CCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCTC
CATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTG
TAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678976
chr19:50678980 G
G
 A
A
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2578-6866C>T
c.2578-6866C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678980
chr19:50678990 G
G
 A
A
 71 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(68): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0079g0142
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
 72 HG00140.hp2
HG00408.hp2
HG00438.hp2
others(69): Show 
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6876C>T
c.2578-6876C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678990
chr19:50678992 G
G
 A
A
 71 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(68): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0079g0142
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
 72 HG00140.hp2
HG00408.hp2
HG00438.hp2
others(69): Show 
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6878C>T
c.2578-6878C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678992
chr19:50678992 G
G
 T
T
 1 a0001c0007t0012g0077
a0001c0007t0012g0077
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2578-6878C>A
c.2578-6878C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678992
chr19:50678993 T
T
 G
G
 1 a0001c0007t0012g0077
a0001c0007t0012g0077
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2578-6879A>C
c.2578-6879A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678993
chr19:50678994 G
G
 A
A
 1 a0001c0007t0012g0077
a0001c0007t0012g0077
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2578-6880C>T
c.2578-6880C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GA
GA
 132 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(129): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0026g0013
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0077g0123
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0040t0005g0206
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
 133 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(130): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(5): Show 
c.2578-6881_2578-6880insT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GATGGGAA
others(880): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGGGTGATGGAGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTA
CAGGTAAGGGGTCAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGT
CAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
 2 a0001c0004t0076g0244
a0001c0016t0072g0069
a0001c0004t0076g0244
a0001c0016t0072g0069
 2 HG01884.hp1
NA18906.hp2
HG01884.hp1
NA18906.hp2
 intron_variant MODIFIER c.2578-6881_2578-688
others(891): Show 
c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
TCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTG
ACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCCCT
CTCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACT
GACACCCCCCCATCACCCTGACCCCTTACCTGTAATGCTTGTAACCCTGA
CCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GATGGGAA
others(825): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGGGTGATGGAGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG
GGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGT
AAGGGGTCAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTG
TGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2578-6881_2578-688
others(836): Show 
c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
TCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTG
ACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCCCTCTCCA
TCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACACTGACAC
CCCCCCATCACCCTGACCCCTTACCTGTAATGCTTGTAACCCTGACCCCT
TCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GATGGGAA
others(460): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGAT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAAGATGA
 1 a0003c0006t0012g0088
a0003c0006t0012g0088
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(471): Show 
c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
TCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTG
ACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GATGGGAA
others(251): Show 
GATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGA
TGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTC
AGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG
AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGA
 1 a0001c0039t0006g0107
a0001c0039t0006g0107
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(262): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCTCCATCACACTGACCCCTCTCCATCACACTGACCCCTCTCCATCACA
CTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTAC
CTGTAATGCTTGTAACCCTGACCCCTTCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GATGGGGA
others(165): Show 
GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG
TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG
GTGATGGGGAGGGGTCAAGATGA
 1 a0001c0004t0028g0274
a0001c0004t0028g0274
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2578-6881_2578-688
others(176): Show 
c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GATGGGGA
others(788): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAAAGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG
GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG
TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG
AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0022g0243
a0001c0003t0022g0243
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2578-6881_2578-688
others(799): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACAC
TGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTG
ACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC
CCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCAC
CCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCC
CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCC
TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(324): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGGTGTCAGTGTGATGGAGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0004g0098
a0001c0003t0004g0098
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(335): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCACCCCTTAC
CTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(229): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
 1 a0002c0001t0004g0135
a0002c0001t0004g0135
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.2578-6881_2578-688
others(240): Show 
c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC
CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT
CCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(456): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG
AGGGGTCAGGGTGA
 1 a0002c0001t0001g0057
a0002c0001t0001g0057
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.2578-6881_2578-688
others(467): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC
ATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACC
CCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCAC
ACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCC
TGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(1026): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGA
GGGGTCAGGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG
GGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGG
TTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTG
ATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0002c0001t0062g0037
a0002c0001t0062g0037
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(1037): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAAT
GCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCC
CCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACC
CCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATC
CTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC
ATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA
CCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTT
ACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCC
CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(304): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGA
 1 a0001c0004t0080g0082
a0001c0004t0080g0082
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2578-6881_2578-688
others(315): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACAC
TGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTG
ACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(324): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
 2 a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0002g0125
a0002c0001t0005g0128
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(335): Show 
c.2578-6881_2578-6880insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC
CTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTAC
CTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(323): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 23 a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
others(20): Show 
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0018
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0014t0086g0242
a0002c0001t0006g0141
a0003c0006t0005g0279
a0011c0031t0029g0129
a0016c0035t0068g0041
 23 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(20): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00741.hp1
HG01081.hp1
HG01167.hp2
HG01192.hp2
HG01256.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03491.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(334): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACC
TGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCAC
ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50678994 G
G
 GTGGGGAG
others(285): Show 
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA
TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA
 1 a0003c0006t0045g0007
a0003c0006t0045g0007
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.2578-6881_2578-688
others(296): Show 
c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCACACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCC
TCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50678994
chr19:50679009 G
G
 T
T
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2578-6895C>A
c.2578-6895C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679009
chr19:50679012 GA
GA
 G
G
 13 a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
others(10): Show 
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0003t0004g0254
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0015t0027g0028
a0001c0032t0018g0185
a0001c0040t0005g0206
a0014c0024t0078g0202
 13 HG02145.hp2
HG02630.hp1
HG03540.hp2
others(10): Show 
HG02145.hp2
HG02630.hp1
HG03540.hp2
NA18960.hp2
NA18974.hp2
NA18986.hp1
NA18998.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2578-6899delT
c.2578-6899delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679012
chr19:50679013 A
A
 ATGGGGAG
others(431): Show 
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGA
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGTGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATG
GGGAGGGGTCAAGATGATGGGGAGGGGGTCAGGGTGATGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.2578-6900_2578-689
others(442): Show 
c.2578-6900_2578-6899insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCCTCCCCATCAT
CTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCC
CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACACTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT
GACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679013
chr19:50679013 A
A
 ATGGGGAG
others(11): Show 
ATGGGGAGGGGTCAGGGTG
 1 a0002c0001t0038g0005
a0002c0001t0038g0005
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.2578-6917_2578-690
others(22): Show 
c.2578-6917_2578-6900dupCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679013
chr19:50679017 G
G
 A
A
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2578-6903C>T
c.2578-6903C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679017
chr19:50679027 G
G
 A
A
 17 a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
others(14): Show 
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0002t0003g0060
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0100g0300
a0001c0002t0105g0304
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0010c0029t0001g0204
a0013c0027t0011g0228
 17 HG00140.hp1
HG01074.hp2
HG01109.hp1
others(14): Show 
HG00140.hp1
HG01074.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp2
HG01358.hp1
HG01981.hp1
HG01993.hp2
HG02074.hp2
HG02738.hp1
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-6913C>T
c.2578-6913C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679027
chr19:50679029 G
G
 A
A
 17 a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
others(14): Show 
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0209
a0001c0002t0003g0060
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0100g0300
a0001c0002t0105g0304
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0010c0029t0001g0204
a0013c0027t0011g0228
 17 HG00140.hp1
HG01074.hp2
HG01109.hp1
others(14): Show 
HG00140.hp1
HG01074.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp2
HG01358.hp1
HG01981.hp1
HG01993.hp2
HG02074.hp2
HG02738.hp1
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-6915C>T
c.2578-6915C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679029
chr19:50679029 G
G
 GTGATGGG
others(477): Show 
GTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGG
GTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGT
CAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2578-6916_2578-691
others(488): Show 
c.2578-6916_2578-6915insTCTTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC
CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC
TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC
TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCC
ATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGT
AACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679029
chr19:50679031 G
G
 GTGGGGAG
others(379): Show 
GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTC
AGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAG
TGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATG
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT
 2 a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0001g0285
a0001c0010t0001g0286
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.2578-6918_2578-691
others(390): Show 
c.2578-6918_2578-6917insACCCTGACCCCTCCCCATCATCTTGA
CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT
CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC
TCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATG
CTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGA
CCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679031
chr19:50679031 GA
GA
 G
G
 59 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(56): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0016g0064
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0019g0225
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
a0017c0036t0002g0294
 59 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(56): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19067.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2578-6918delT
c.2578-6918delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679031
chr19:50679032 A
A
 ATGGGGAG
others(30): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0001c0004t0007g0063
a0001c0004t0007g0063
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.2578-6919_2578-691
others(41): Show 
c.2578-6919_2578-6918insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679032
chr19:50679032 A
A
 ATGGGGAG
others(68): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0001c0003t0008g0231
a0001c0003t0008g0231
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2578-6919_2578-691
others(79): Show 
c.2578-6919_2578-6918insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679032
chr19:50679032 A
A
 G
G
 2 a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0001g0285
a0001c0010t0001g0286
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.2578-6918T>C
c.2578-6918T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679032
chr19:50679046 G
G
 A
A
 1 a0002c0001t0062g0037
a0002c0001t0062g0037
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2578-6932C>T
c.2578-6932C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679046
chr19:50679048 G
G
 A
A
 1 a0002c0001t0062g0037
a0002c0001t0062g0037
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.2578-6934C>T
c.2578-6934C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679048
chr19:50679065 A
A
 G
G
 101 a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
others(98): Show 
a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0100g0300
a0001c0002t0105g0304
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0016g0064
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0027g0028
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0003c0006t0108g0309
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 101 HG00140.hp1
HG00423.hp1
HG00597.hp2
others(98): Show 
HG00140.hp1
HG00423.hp1
HG00597.hp2
HG01070.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18960.hp2
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-6951T>C
c.2578-6951T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679065
chr19:50679066 G
G
 T
T
 1 a0001c0002t0015g0114
a0001c0002t0015g0114
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.2578-6952C>A
c.2578-6952C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679066
chr19:50679067 A
A
 ATGATGGG
others(12): Show 
ATGATGGGGAGGGGTCAGGG
 5 a0001c0003t0073g0071
a0001c0004t0028g0274
a0001c0004t0076g0244
others(2): Show 
a0001c0003t0073g0071
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0016t0072g0069
a0003c0006t0012g0088
 5 HG01243.hp2
HG01884.hp1
HG02818.hp2
others(2): Show 
HG01243.hp2
HG01884.hp1
HG02818.hp2
HG03130.hp1
NA18906.hp2
 intron_variant MODIFIER c.2578-6972_2578-695
others(23): Show 
c.2578-6972_2578-6954dupCCCTGACCCCTCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679067
chr19:50679067 A
A
 ATGATGGG
others(31): Show 
ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
 65 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(62): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
 66 HG00140.hp2
HG00408.hp2
HG00438.hp2
others(63): Show 
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2578-6991_2578-695
others(42): Show 
c.2578-6991_2578-6954dupCCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679067
chr19:50679067 A
A
 ATGATGGG
others(551): Show 
ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG
GGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG
GGAAGGGGTCAGGGTTACAAACATTACAGGTAAGGGGTGAGGGTGATGGG
GGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGG
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2578-6954_2578-695
others(562): Show 
c.2578-6954_2578-6953insCCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACCCTGACCCCTC
CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT
CACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCC
TTACCTGTAATGTTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCACCCTGACCCCTCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679067
chr19:50679067 A
A
 ATGATGGG
others(105): Show 
ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGG
GGAGGGGTCAGGG
 1 a0001c0004t0008g0049
a0001c0004t0008g0049
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2578-6954_2578-695
others(116): Show 
c.2578-6954_2578-6953insCCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679067
chr19:50679067 A
A
 G
G
 101 a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
others(98): Show 
a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0189
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0100g0300
a0001c0002t0105g0304
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0016g0064
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0027g0028
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0003c0006t0108g0309
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 101 HG00140.hp1
HG00423.hp1
HG00597.hp2
others(98): Show 
HG00140.hp1
HG00423.hp1
HG00597.hp2
HG01070.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01981.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18960.hp2
NA18964.hp1
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19067.hp2
NA19089.hp1
NA19090.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2578-6953T>C
c.2578-6953T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679067
chr19:50679069 GA
GA
 G
G
 13 a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
others(10): Show 
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0038g0005
a0014c0024t0078g0202
 13 HG01167.hp1
HG01169.hp1
NA18960.hp2
others(10): Show 
HG01167.hp1
HG01169.hp1
NA18960.hp2
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2578-6956delT
c.2578-6956delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679069
chr19:50679070 A
A
 ATGGAGAG
others(580): Show 
ATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATG
GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0001c0002t0015g0114
a0001c0002t0015g0114
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.2578-6957_2578-695
others(591): Show 
c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCTCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679070
chr19:50679070 A
A
 ATGGGGAG
others(105): Show 
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTG
 1 a0001c0003t0025g0008
a0001c0003t0025g0008
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2578-6957_2578-695
others(116): Show 
c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679070
chr19:50679070 A
A
 ATGGGGAG
others(86): Show 
ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 4 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0064g0044
others(1): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0064g0044
a0001c0003t0099g0308
 4 HG01109.hp2
HG02723.hp1
HG02976.hp2
others(1): Show 
HG01109.hp2
HG02723.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.2578-6957_2578-695
others(97): Show 
c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ATCTTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679070
chr19:50679070 A
A
 ATGGGGAG
others(559): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCA
GTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGAT
GGGGAGGGGTCAGGGTG
 1 a0001c0018t0003g0126
a0001c0018t0003g0126
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.2578-6957_2578-695
others(570): Show 
c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679070
chr19:50679070 A
A
 ATGGGGAG
others(540): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATG
GAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA
GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGTGTGATGGAGAGGGGTCA
GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAG
GGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG
 1 a0001c0003t0004g0073
a0001c0003t0004g0073
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2578-6957_2578-695
others(551): Show 
c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679070
chr19:50679070 A
A
 ATGGGGAG
others(954): Show 
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG
AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG
AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG
ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG
GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA
TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGTGTG
ATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGA
GGGGTCAGGGTG
 1 a0001c0003t0001g0059
a0001c0003t0001g0059
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2578-6957_2578-695
others(965): Show 
c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTC
CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGA
CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC
TTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGAC
CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679070
chr19:50679070 A
A
 ATGGGGAG
others(599): Show 
ATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGG
GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG
TGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGG
GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATG
GAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG
GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG
GGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC
AAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT
GTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTG
 2 a0001c0002t0001g0118
a0001c0002t0057g0033
a0001c0002t0001g0118
a0001c0002t0057g0033
 2 HG00423.hp1
NA18964.hp1
HG00423.hp1
NA18964.hp1
 intron_variant MODIFIER c.2578-6957_2578-695
others(610): Show 
c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC
ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT
CCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA
TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC
CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC
CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCC
CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC
CCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA
CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC
CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG
ACCCCTCTCCATCACACTGACCCCTCCCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679070
chr19:50679074 G
G
 GAAGGGGT
others(60): Show 
GAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGG
GGGTGTCAGTGTGATGGA
 1 a0001c0004t0016g0064
a0001c0004t0016g0064
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2578-6961_2578-696
others(71): Show 
c.2578-6961_2578-6960insTCCATCACACTGACACCCCCCCATCA
CCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679074
chr19:50679084 G
G
 A
A
 33 a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
others(30): Show 
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0044g0010
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0014t0086g0242
a0002c0001t0001g0057
a0002c0001t0006g0141
a0003c0006t0005g0279
a0003c0006t0045g0007
a0003c0006t0108g0309
a0011c0031t0029g0129
a0016c0035t0068g0041
 33 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(30): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
 intron_variant MODIFIER c.2578-6970C>T
c.2578-6970C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679084
chr19:50679086 G
G
 A
A
 33 a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
others(30): Show 
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0044g0010
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0014t0086g0242
a0002c0001t0001g0057
a0002c0001t0006g0141
a0003c0006t0005g0279
a0003c0006t0045g0007
a0003c0006t0108g0309
a0011c0031t0029g0129
a0016c0035t0068g0041
 33 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(30): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp1
HG02486.hp1
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02735.hp2
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp2
 intron_variant MODIFIER c.2578-6972C>T
c.2578-6972C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679086
chr19:50679103 G
G
 A
A
 1 a0001c0004t0016g0064
a0001c0004t0016g0064
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2578-6989C>T
c.2578-6989C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679103
chr19:50679105 G
G
 A
A
 1 a0001c0004t0016g0064
a0001c0004t0016g0064
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2578-6991C>T
c.2578-6991C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679105
chr19:50679107 G
G
 GA
GA
 6 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(3): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
a0001c0004t0016g0064
 6 HG01109.hp2
HG02109.hp2
HG02723.hp1
others(3): Show 
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.2578-6994_2578-699
others(5): Show 
c.2578-6994_2578-6993insT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679107
chr19:50679107 G
G
 GATGGGGA
others(13): Show 
GATGGGGAGGGGTCAGGGTGA
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2578-6994_2578-699
others(24): Show 
c.2578-6994_2578-6993insTCACCCTGACCCCTCCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679107
chr19:50679107 G
G
 GATGGGGA
others(125): Show 
GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGT
CAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG
AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA
 1 a0002c0001t0004g0135
a0002c0001t0004g0135
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.2578-6994_2578-699
others(136): Show 
c.2578-6994_2578-6993insTCATCTTGACCCCTCCCCATCACCCT
GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA
CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT
CCCCAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679107
chr19:50679136 G
G
 T
T
 1 a0015c0033t0002g0186
a0015c0033t0002g0186
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.2578-7022C>A
c.2578-7022C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679136
chr19:50679175 T
T
 TG
TG
 16 a0001c0002t0006g0140
a0001c0002t0009g0194
a0001c0003t0003g0253
others(13): Show 
a0001c0002t0006g0140
a0001c0002t0009g0194
a0001c0003t0003g0253
a0001c0003t0004g0191
a0001c0004t0026g0018
a0001c0007t0070g0047
a0002c0001t0003g0160
a0002c0001t0008g0055
a0002c0001t0019g0225
a0002c0001t0032g0154
a0002c0001t0061g0039
a0002c0008t0013g0207
a0002c0008t0067g0046
a0003c0005t0020g0149
a0003c0005t0043g0020
a0012c0026t0060g0038
 16 HG00544.hp2
HG00597.hp2
HG00621.hp2
others(13): Show 
HG00544.hp2
HG00597.hp2
HG00621.hp2
HG00642.hp1
HG01192.hp2
HG02055.hp1
HG02809.hp1
HG03098.hp1
HG03516.hp1
HG03654.hp2
HG03831.hp1
HG04199.hp2
NA18960.hp1
NA19000.hp1
NA19067.hp2
NA19090.hp1
 intron_variant MODIFIER c.2577+7061dupC
c.2577+7061dupC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679175
chr19:50679464 A
A
 G
G
 24 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(21): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0001g0059
a0001c0003t0004g0073
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0040t0005g0206
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0038g0005
a0014c0024t0078g0202
 24 HG00423.hp1
HG01261.hp1
HG01891.hp2
others(21): Show 
HG00423.hp1
HG01261.hp1
HG01891.hp2
HG02818.hp1
HG02970.hp2
HG03453.hp1
HG03579.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.2577+6773T>C
c.2577+6773T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679464
chr19:50679490 T
T
 G
G
 26 a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
others(23): Show 
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0030g0246
a0001c0002t0033g0306
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0012t0014g0105
 26 HG00408.hp2
HG00544.hp1
HG00639.hp2
others(23): Show 
HG00408.hp2
HG00544.hp1
HG00639.hp2
HG00733.hp1
HG01074.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp2
HG01255.hp2
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02523.hp1
HG02559.hp1
HG02738.hp1
HG02738.hp2
HG03017.hp1
HG03704.hp1
HG03831.hp1
HG04184.hp2
HG04204.hp1
NA18997.hp2
NA19009.hp1
NA20752.hp2
 intron_variant MODIFIER c.2577+6747A>C
c.2577+6747A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679490
chr19:50679542 A
A
 C
C
 2 a0001c0002t0007g0269
a0001c0020t0008g0260
a0001c0002t0007g0269
a0001c0020t0008g0260
 2 HG02886.hp2
NA20129.hp2
HG02886.hp2
NA20129.hp2
 intron_variant MODIFIER c.2577+6695T>G
c.2577+6695T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679542
chr19:50679736 G
G
 A
A
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2577+6501C>T
c.2577+6501C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679736
chr19:50679809 C
C
 G
G
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2577+6428G>C
c.2577+6428G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679809
chr19:50679926 G
G
 T
T
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+6311C>A
c.2577+6311C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679926
chr19:50679927 C
C
 T
T
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+6310G>A
c.2577+6310G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50679927
chr19:50680009 G
G
 A
A
 18 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(15): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0004g0073
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0040t0005g0206
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0038g0005
a0014c0024t0078g0202
 18 HG00423.hp1
HG01891.hp2
NA18950.hp2
others(15): Show 
HG00423.hp1
HG01891.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp1
 intron_variant MODIFIER c.2577+6228C>T
c.2577+6228C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680009
chr19:50680093 G
G
 A
A
 1 a0003c0005t0003g0199
a0003c0005t0003g0199
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.2577+6144C>T
c.2577+6144C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680093
chr19:50680214 G
G
 T
T
 2 a0001c0004t0008g0049
a0002c0001t0019g0225
a0001c0004t0008g0049
a0002c0001t0019g0225
 2 HG02109.hp1
HG04199.hp2
HG02109.hp1
HG04199.hp2
 intron_variant MODIFIER c.2577+6023C>A
c.2577+6023C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680214
chr19:50680256 C
C
 T
T
 1 a0002c0001t0002g0296
a0002c0001t0002g0296
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.2577+5981G>A
c.2577+5981G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680256
chr19:50680259 T
T
 C
C
 1 a0002c0001t0008g0055
a0002c0001t0008g0055
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.2577+5978A>G
c.2577+5978A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680259
chr19:50680342 A
A
 T
T
 3 a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
 3 HG02809.hp1
HG03225.hp2
HG03579.hp1
HG02809.hp1
HG03225.hp2
HG03579.hp1
 intron_variant MODIFIER c.2577+5895T>A
c.2577+5895T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680342
chr19:50680363 G
G
 A
A
 4 a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
others(1): Show 
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
 4 HG01891.hp1
HG02451.hp2
HG02486.hp2
others(1): Show 
HG01891.hp1
HG02451.hp2
HG02486.hp2
HG06807.hp1
 intron_variant MODIFIER c.2577+5874C>T
c.2577+5874C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680363
chr19:50680387 G
G
 A
A
 6 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
others(3): Show 
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0018t0077g0123
a0002c0001t0005g0110
a0002c0001t0054g0031
 6 HG02818.hp1
HG02970.hp2
HG03453.hp1
others(3): Show 
HG02818.hp1
HG02970.hp2
HG03453.hp1
HG03579.hp2
HG03710.hp1
HG03942.hp1
 intron_variant MODIFIER c.2577+5850C>T
c.2577+5850C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680387
chr19:50680463 A
A
 G
G
 2 a0002c0001t0039g0014
a0002c0001t0092g0215
a0002c0001t0039g0014
a0002c0001t0092g0215
 2 HG03834.hp2
HG03942.hp2
HG03834.hp2
HG03942.hp2
 intron_variant MODIFIER c.2577+5774T>C
c.2577+5774T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680463
chr19:50680483 G
G
 A
A
 1 a0001c0003t0007g0074
a0001c0003t0007g0074
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2577+5754C>T
c.2577+5754C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680483
chr19:50680493 C
C
 G
G
 5 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(2): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
 5 HG01109.hp2
HG02109.hp2
HG02723.hp1
others(2): Show 
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG02976.hp2
HG03041.hp2
 intron_variant MODIFIER c.2577+5744G>C
c.2577+5744G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680493
chr19:50680523 A
A
 C
C
 18 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(15): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0004g0073
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0040t0005g0206
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0038g0005
a0014c0024t0078g0202
 18 HG00423.hp1
HG01891.hp2
NA18950.hp2
others(15): Show 
HG00423.hp1
HG01891.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
NA19240.hp1
 intron_variant MODIFIER c.2577+5714T>G
c.2577+5714T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680523
chr19:50680591 A
A
 G
G
 27 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(24): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0004t0007g0063
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0019t0020g0235
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
 27 HG02055.hp1
HG02145.hp1
HG02572.hp1
others(24): Show 
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
NA18522.hp1
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2577+5646T>C
c.2577+5646T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680591
chr19:50680592 T
T
 C
C
 1 a0001c0002t0002g0258
a0001c0002t0002g0258
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.2577+5645A>G
c.2577+5645A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680592
chr19:50680641 CT
CT
 C
C
 16 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(13): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0038g0005
a0014c0024t0078g0202
 16 HG00423.hp1
NA18950.hp2
NA18960.hp2
others(13): Show 
HG00423.hp1
NA18950.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2577+5595delA
c.2577+5595delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680641
chr19:50680656 C
C
 CT
CT
 65 a0001c0002t0001g0203
a0001c0002t0002g0108
a0001c0002t0009g0194
others(62): Show 
a0001c0002t0001g0203
a0001c0002t0002g0108
a0001c0002t0009g0194
a0001c0002t0034g0002
a0001c0002t0051g0026
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0027g0028
a0001c0019t0020g0235
a0002c0001t0005g0144
a0002c0001t0005g0169
a0002c0001t0019g0225
a0002c0008t0003g0205
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0006t0014g0212
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
a0017c0036t0002g0294
 65 HG00738.hp2
HG01070.hp1
HG01358.hp2
others(62): Show 
HG00738.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03831.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18951.hp1
NA18969.hp2
NA18983.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19090.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2577+5580dupA
c.2577+5580dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680656
chr19:50680656 C
C
 CTT
CTT
 6 a0001c0003t0004g0191
a0001c0003t0022g0075
a0001c0003t0075g0289
others(3): Show 
a0001c0003t0004g0191
a0001c0003t0022g0075
a0001c0003t0075g0289
a0001c0011t0006g0267
a0001c0032t0018g0185
a0003c0005t0043g0020
 6 HG00597.hp2
HG02280.hp1
HG02572.hp1
others(3): Show 
HG00597.hp2
HG02280.hp1
HG02572.hp1
HG02630.hp1
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.2577+5579_2577+558
others(6): Show 
c.2577+5579_2577+5580dupAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680656
chr19:50680669 T
T
 C
C
 1 a0001c0012t0006g0103
a0001c0012t0006g0103
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.2577+5568A>G
c.2577+5568A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680669
chr19:50680670 C
C
 T
T
 187 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(184): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
 188 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(185): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18950.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18969.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+5567G>A
c.2577+5567G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680670
chr19:50680671 C
C
 T
T
 61 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(58): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0019g0225
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
a0017c0036t0002g0294
 61 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(58): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2577+5566G>A
c.2577+5566G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680671
chr19:50680719 G
G
 A
A
 167 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(164): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0016t0072g0069
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0012g0088
a0003c0006t0014g0212
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0017c0036t0002g0294
 168 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(165): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18983.hp1
NA18997.hp2
NA19003.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19090.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+5518C>T
c.2577+5518C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680719
chr19:50680759 G
G
 A
A
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+5478C>T
c.2577+5478C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680759
chr19:50680772 C
C
 T
T
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2577+5465G>A
c.2577+5465G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680772
chr19:50680781 G
G
 A
A
 61 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(58): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0019g0225
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
a0017c0036t0002g0294
 61 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(58): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2577+5456C>T
c.2577+5456C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680781
chr19:50680805 G
G
 A
A
 82 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(79): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0061
a0001c0003t0079g0142
a0001c0003t0112g0315
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0047g0024
a0002c0001t0056g0032
a0002c0001t0087g0095
a0004c0017t0001g0001
a0010c0029t0001g0204
a0013c0027t0011g0228
 83 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(80): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18951.hp2
NA18962.hp1
NA18997.hp2
NA19007.hp2
NA19009.hp1
NA19060.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+5432C>T
c.2577+5432C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680805
chr19:50680881 C
C
 A
A
 5 a0001c0003t0073g0071
a0001c0004t0028g0274
a0001c0004t0076g0244
others(2): Show 
a0001c0003t0073g0071
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0016t0072g0069
a0003c0006t0012g0088
 5 HG01243.hp2
HG01884.hp1
HG02818.hp2
others(2): Show 
HG01243.hp2
HG01884.hp1
HG02818.hp2
HG03130.hp1
NA18906.hp2
 intron_variant MODIFIER c.2577+5356G>T
c.2577+5356G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680881
chr19:50680900 C
C
 T
T
 1 a0001c0002t0009g0175
a0001c0002t0009g0175
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.2577+5337G>A
c.2577+5337G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680900
chr19:50680964 C
C
 T
T
 34 a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
others(31): Show 
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0014t0008g0230
a0001c0032t0018g0185
a0002c0001t0019g0225
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0017c0036t0002g0294
 34 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(31): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02965.hp2
HG02976.hp1
HG03540.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp2
NA19043.hp1
NA19067.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2577+5273G>A
c.2577+5273G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50680964
chr19:50681118 C
C
 A
A
 5 a0002c0001t0004g0135
a0002c0001t0008g0265
a0002c0001t0008g0266
others(2): Show 
a0002c0001t0004g0135
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
 5 HG01257.hp2
HG01258.hp1
HG01433.hp2
others(2): Show 
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.2577+5119G>T
c.2577+5119G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681118
chr19:50681168 T
T
 C
C
 61 a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
others(58): Show 
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0019g0225
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0012c0026t0060g0038
a0017c0036t0002g0294
 61 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(58): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19067.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2577+5069A>G
c.2577+5069A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681168
chr19:50681208 A
A
 G
G
 1 a0001c0004t0103g0310
a0001c0004t0103g0310
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2577+5029T>C
c.2577+5029T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681208
chr19:50681239 G
G
 A
A
 24 a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
others(21): Show 
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0023g0078
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0004t0004g0182
a0001c0004t0028g0234
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0011t0006g0267
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0014g0212
a0006c0023t0012g0085
a0017c0036t0002g0294
 24 HG00597.hp2
HG01070.hp1
HG01358.hp2
others(21): Show 
HG00597.hp2
HG01070.hp1
HG01358.hp2
HG01884.hp2
HG02040.hp1
HG02071.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02965.hp2
HG02976.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18969.hp2
NA18983.hp1
NA19030.hp2
NA19067.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.2577+4998C>T
c.2577+4998C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681239
chr19:50681280 A
A
 G
G
 1 a0002c0001t0019g0225
a0002c0001t0019g0225
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2577+4957T>C
c.2577+4957T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681280
chr19:50681551 G
G
 A
A
 5 a0001c0002t0001g0181
a0001c0002t0001g0201
a0001c0002t0009g0131
others(2): Show 
a0001c0002t0001g0181
a0001c0002t0001g0201
a0001c0002t0009g0131
a0001c0002t0084g0130
a0002c0001t0087g0095
 5 HG01123.hp1
HG01516.hp2
HG03491.hp2
others(2): Show 
HG01123.hp1
HG01516.hp2
HG03491.hp2
HG03492.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+4686C>T
c.2577+4686C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681551
chr19:50681731 G
G
 A
A
 16 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(13): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0038g0005
a0014c0024t0078g0202
 16 HG00423.hp1
NA18950.hp2
NA18960.hp2
others(13): Show 
HG00423.hp1
NA18950.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18983.hp2
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2577+4506C>T
c.2577+4506C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681731
chr19:50681840 T
T
 C
C
 6 a0001c0003t0004g0073
a0001c0004t0008g0062
a0001c0004t0010g0058
others(3): Show 
a0001c0003t0004g0073
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0014t0008g0230
a0001c0018t0003g0126
 6 HG01891.hp1
HG01891.hp2
HG02451.hp2
others(3): Show 
HG01891.hp1
HG01891.hp2
HG02451.hp2
HG02486.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.2577+4397A>G
c.2577+4397A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681840
chr19:50681942 C
C
 T
T
 2 a0003c0005t0003g0100
a0003c0005t0003g0241
a0003c0005t0003g0100
a0003c0005t0003g0241
 2 HG01070.hp1
NA20805.hp1
HG01070.hp1
NA20805.hp1
 intron_variant MODIFIER c.2577+4295G>A
c.2577+4295G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681942
chr19:50681946 GT
GT
 G
G
 3 a0001c0003t0004g0073
a0001c0018t0003g0126
a0006c0023t0012g0085
a0001c0003t0004g0073
a0001c0018t0003g0126
a0006c0023t0012g0085
 3 HG01891.hp2
HG02257.hp2
NA19240.hp1
HG01891.hp2
HG02257.hp2
NA19240.hp1
 intron_variant MODIFIER c.2577+4290delA
c.2577+4290delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681946
chr19:50681999 C
C
 G
G
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2577+4238G>C
c.2577+4238G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50681999
chr19:50682055 C
C
 T
T
 15 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(12): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0040t0005g0206
a0002c0001t0038g0005
a0014c0024t0078g0202
 15 HG00423.hp1
HG01261.hp1
NA18960.hp2
others(12): Show 
HG00423.hp1
HG01261.hp1
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2577+4182G>A
c.2577+4182G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682055
chr19:50682065 A
A
 AT
AT
 101 a0001c0002t0001g0195
a0001c0002t0002g0108
a0001c0002t0002g0258
others(98): Show 
a0001c0002t0001g0195
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0030g0246
a0001c0002t0033g0306
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0072g0069
a0001c0018t0077g0123
a0001c0032t0018g0185
a0001c0038t0094g0287
a0002c0001t0001g0057
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0108g0309
a0011c0031t0029g0129
a0016c0035t0068g0041
a0017c0036t0002g0294
 101 HG00323.hp1
HG00323.hp2
HG00408.hp2
others(98): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01358.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18962.hp1
NA18983.hp1
NA18997.hp2
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.2577+4171dupA
c.2577+4171dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682065
chr19:50682081 G
G
 A
A
 1 a0001c0004t0014g0147
a0001c0004t0014g0147
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.2577+4156C>T
c.2577+4156C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682081
chr19:50682094 C
C
 T
T
 213 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(210): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0002g0268
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0108g0309
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0016c0035t0068g0041
a0017c0036t0002g0294
 214 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(211): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp1
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+4143G>A
c.2577+4143G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682094
chr19:50682113 T
T
 A
A
 1 a0001c0015t0001g0101
a0001c0015t0001g0101
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2577+4124A>T
c.2577+4124A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682113
chr19:50682255 T
T
 C
C
 98 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(95): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0003g0196
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0131
a0001c0002t0011g0081
a0001c0002t0015g0138
a0001c0002t0018g0127
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0012
a0001c0003t0036g0004
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0015t0001g0101
a0001c0016t0072g0069
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0002g0268
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0005t0003g0241
a0003c0006t0012g0088
a0004c0017t0001g0001
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
 99 HG00140.hp1
HG00140.hp2
HG00621.hp2
others(96): Show 
HG00140.hp1
HG00140.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02055.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02523.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG04199.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18951.hp2
NA18966.hp2
NA19003.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp2
NA19060.hp1
NA19067.hp1
NA19074.hp2
NA19090.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+3982A>G
c.2577+3982A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682255
chr19:50682476 A
A
 G
G
 5 a0001c0003t0081g0179
a0001c0004t0076g0244
a0001c0016t0072g0069
others(2): Show 
a0001c0003t0081g0179
a0001c0004t0076g0244
a0001c0016t0072g0069
a0003c0006t0012g0088
a0008c0030t0071g0072
 5 HG01884.hp1
HG03130.hp1
HG03195.hp2
others(2): Show 
HG01884.hp1
HG03130.hp1
HG03195.hp2
HG03453.hp2
NA18906.hp2
 intron_variant MODIFIER c.2577+3761T>C
c.2577+3761T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682476
chr19:50682607 C
C
 T
T
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2577+3630G>A
c.2577+3630G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682607
chr19:50682618 T
T
 C
C
 11 a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
others(8): Show 
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0011t0001g0052
a0001c0011t0001g0280
a0002c0001t0001g0057
 11 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(8): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01515.hp1
HG02735.hp2
HG03831.hp2
 intron_variant MODIFIER c.2577+3619A>G
c.2577+3619A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682618
chr19:50682677 G
G
 T
T
 14 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(11): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0038g0005
a0014c0024t0078g0202
 14 HG00423.hp1
NA18960.hp2
NA18964.hp1
others(11): Show 
HG00423.hp1
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2577+3560C>A
c.2577+3560C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682677
chr19:50682756 G
G
 C
C
 1 a0001c0002t0083g0229
a0001c0002t0083g0229
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2577+3481C>G
c.2577+3481C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682756
chr19:50682824 C
C
 T
T
 92 a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
others(89): Show 
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0030g0246
a0001c0002t0033g0306
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0077g0123
a0002c0001t0001g0057
a0002c0001t0019g0225
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0108g0309
a0011c0031t0029g0129
a0016c0035t0068g0041
a0017c0036t0002g0294
 92 HG00323.hp1
HG00323.hp2
HG00408.hp2
others(89): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01358.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18962.hp1
NA18983.hp1
NA18997.hp2
NA19009.hp1
NA19030.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.2577+3413G>A
c.2577+3413G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50682824
chr19:50683043 T
T
 G
G
 222 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(219): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0002g0268
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0108g0309
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0016c0035t0068g0041
a0017c0036t0002g0294
 223 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(220): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp1
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+3194A>C
c.2577+3194A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683043
chr19:50683077 C
C
 T
T
 1 a0002c0001t0021g0019
a0002c0001t0021g0019
 1 NA18997.hp1
NA18997.hp1
 intron_variant MODIFIER c.2577+3160G>A
c.2577+3160G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683077
chr19:50683124 G
G
 A
A
 4 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
others(1): Show 
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0004t0080g0082
 4 HG02818.hp1
HG03453.hp1
HG03471.hp2
others(1): Show 
HG02818.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
 intron_variant MODIFIER c.2577+3113C>T
c.2577+3113C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683124
chr19:50683338 A
A
 G
G
 219 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(216): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0002g0268
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0108g0309
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0016c0035t0068g0041
a0017c0036t0002g0294
 220 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(217): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp1
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+2899T>C
c.2577+2899T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683338
chr19:50683350 A
A
 G
G
 19 a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
others(16): Show 
a0001c0002t0001g0118
a0001c0002t0001g0203
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0005g0116
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0099g0308
a0001c0015t0027g0028
a0001c0040t0005g0206
a0002c0001t0038g0005
a0014c0024t0078g0202
 19 HG00423.hp1
HG01109.hp2
HG02109.hp2
others(16): Show 
HG00423.hp1
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG02976.hp2
HG03041.hp2
NA18960.hp2
NA18964.hp1
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp2
NA19056.hp1
NA19089.hp1
NA19090.hp2
 intron_variant MODIFIER c.2577+2887T>C
c.2577+2887T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683350
chr19:50683528 T
T
 C
C
 1 a0001c0002t0005g0259
a0001c0002t0005g0259
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.2577+2709A>G
c.2577+2709A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683528
chr19:50683587 T
T
 C
C
 6 a0001c0003t0081g0179
a0001c0004t0076g0244
a0001c0016t0072g0069
others(3): Show 
a0001c0003t0081g0179
a0001c0004t0076g0244
a0001c0016t0072g0069
a0001c0038t0094g0287
a0003c0006t0012g0088
a0008c0030t0071g0072
 6 HG01884.hp1
HG03130.hp1
HG03195.hp2
others(3): Show 
HG01884.hp1
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp1
NA18906.hp2
 intron_variant MODIFIER c.2577+2650A>G
c.2577+2650A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683587
chr19:50683604 C
C
 T
T
 4 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
others(1): Show 
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0004t0080g0082
 4 HG02818.hp1
HG03453.hp1
HG03471.hp2
others(1): Show 
HG02818.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp2
 intron_variant MODIFIER c.2577+2633G>A
c.2577+2633G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683604
chr19:50683719 C
C
 G
G
 1 a0001c0002t0091g0115
a0001c0002t0091g0115
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.2577+2518G>C
c.2577+2518G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683719
chr19:50683769 G
G
 A
A
 1 a0001c0002t0016g0112
a0001c0002t0016g0112
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.2577+2468C>T
c.2577+2468C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683769
chr19:50683799 C
C
 T
T
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2577+2438G>A
c.2577+2438G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683799
chr19:50683859 A
A
 G
G
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2577+2378T>C
c.2577+2378T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683859
chr19:50683914 C
C
 A
A
 1 a0001c0019t0020g0235
a0001c0019t0020g0235
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2577+2323G>T
c.2577+2323G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50683914
chr19:50684017 C
C
 T
T
 4 a0001c0002t0003g0196
a0001c0003t0079g0142
a0001c0010t0004g0183
others(1): Show 
a0001c0002t0003g0196
a0001c0003t0079g0142
a0001c0010t0004g0183
a0001c0010t0004g0184
 4 HG00735.hp2
HG01069.hp2
HG01071.hp2
others(1): Show 
HG00735.hp2
HG01069.hp2
HG01071.hp2
HG03834.hp1
 intron_variant MODIFIER c.2577+2220G>A
c.2577+2220G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684017
chr19:50684143 T
T
 C
C
 2 a0001c0003t0082g0083
a0001c0009t0022g0084
a0001c0003t0082g0083
a0001c0009t0022g0084
 2 HG02258.hp2
HG02572.hp2
HG02258.hp2
HG02572.hp2
 intron_variant MODIFIER c.2577+2094A>G
c.2577+2094A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684143
chr19:50684229 G
G
 GT
GT
 7 a0001c0002t0001g0203
a0001c0002t0051g0026
a0001c0004t0026g0013
others(4): Show 
a0001c0002t0001g0203
a0001c0002t0051g0026
a0001c0004t0026g0013
a0002c0001t0003g0160
a0002c0001t0006g0141
a0002c0001t0058g0035
a0002c0001t0107g0305
 7 HG02056.hp1
HG02738.hp1
HG03688.hp1
others(4): Show 
HG02056.hp1
HG02738.hp1
HG03688.hp1
HG04115.hp2
NA18960.hp1
NA18978.hp1
NA19010.hp2
 intron_variant MODIFIER c.2577+2007dupA
c.2577+2007dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684229
chr19:50684229 G
G
 GTT
GTT
 108 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(105): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0003g0196
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0131
a0001c0002t0011g0081
a0001c0002t0015g0114
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0079
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0015g0066
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0008t0013g0207
a0002c0008t0067g0046
a0003c0005t0003g0241
a0003c0006t0014g0212
a0004c0017t0001g0001
a0007c0034t0007g0252
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0013c0027t0011g0228
a0014c0024t0078g0202
 109 HG00140.hp1
HG00140.hp2
HG00621.hp2
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02486.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG04228.hp1
NA18960.hp2
NA18964.hp1
NA18966.hp2
NA18974.hp2
NA18979.hp1
NA18986.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19043.hp2
NA19056.hp1
NA19067.hp1
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2577+2006_2577+200
others(6): Show 
c.2577+2006_2577+2007dupAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684229
chr19:50684229 G
G
 GTTT
GTTT
 13 a0001c0002t0001g0118
a0001c0003t0011g0050
a0001c0003t0066g0043
others(10): Show 
a0001c0002t0001g0118
a0001c0003t0011g0050
a0001c0003t0066g0043
a0001c0003t0099g0308
a0001c0004t0016g0080
a0001c0004t0076g0244
a0001c0016t0072g0069
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0041t0013g0255
a0003c0006t0012g0088
a0008c0030t0071g0072
a0012c0026t0060g0038
 13 HG00423.hp1
HG01884.hp1
HG02055.hp1
others(10): Show 
HG00423.hp1
HG01884.hp1
HG02055.hp1
HG02145.hp1
HG02523.hp2
HG02559.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp2
NA18906.hp2
NA19010.hp1
NA19030.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+2005_2577+200
others(7): Show 
c.2577+2005_2577+2007dupAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684229
chr19:50684231 T
T
 G
G
 2 a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0013t0024g0122
a0001c0013t0024g0136
 2 HG03225.hp1
NA19240.hp2
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.2577+2006A>C
c.2577+2006A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684231
chr19:50684369 G
G
 A
A
 3 a0001c0016t0063g0040
a0002c0001t0011g0232
a0002c0001t0011g0233
a0001c0016t0063g0040
a0002c0001t0011g0232
a0002c0001t0011g0233
 3 HG01261.hp1
NA18906.hp1
NA21309.hp2
HG01261.hp1
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.2577+1868C>T
c.2577+1868C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684369
chr19:50684370 C
C
 G
G
 3 a0001c0016t0063g0040
a0002c0001t0011g0232
a0002c0001t0011g0233
a0001c0016t0063g0040
a0002c0001t0011g0232
a0002c0001t0011g0233
 3 HG01261.hp1
NA18906.hp1
NA21309.hp2
HG01261.hp1
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.2577+1867G>C
c.2577+1867G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684370
chr19:50684564 G
G
 C
C
 1 a0001c0004t0026g0018
a0001c0004t0026g0018
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.2577+1673C>G
c.2577+1673C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684564
chr19:50684566 G
G
 A
A
 1 a0001c0002t0006g0140
a0001c0002t0006g0140
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.2577+1671C>T
c.2577+1671C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684566
chr19:50684673 A
A
 G
G
 83 a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
others(80): Show 
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0030g0246
a0001c0002t0033g0306
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0010g0158
a0001c0003t0044g0010
a0001c0003t0075g0289
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0008g0049
a0001c0004t0014g0147
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0103g0310
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0014g0105
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0002g0293
a0002c0001t0003g0148
a0002c0001t0004g0135
a0002c0001t0008g0288
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0065g0042
a0002c0001t0106g0311
a0003c0005t0002g0174
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0045g0007
a0003c0006t0108g0309
a0016c0035t0068g0041
a0017c0036t0002g0294
 83 HG00323.hp1
HG00323.hp2
HG00408.hp2
others(80): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp2
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18962.hp1
NA18983.hp1
NA18997.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp2
 intron_variant MODIFIER c.2577+1564T>C
c.2577+1564T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684673
chr19:50684989 G
G
 A
A
 4 a0002c0001t0002g0271
a0002c0001t0005g0144
a0002c0001t0019g0165
others(1): Show 
a0002c0001t0002g0271
a0002c0001t0005g0144
a0002c0001t0019g0165
a0002c0001t0089g0217
 4 HG00673.hp1
NA18951.hp1
NA18998.hp2
others(1): Show 
HG00673.hp1
NA18951.hp1
NA18998.hp2
NA19012.hp2
 intron_variant MODIFIER c.2577+1248C>T
c.2577+1248C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684989
chr19:50684995 C
C
 G
G
 2 a0002c0001t0032g0154
a0002c0001t0048g0022
a0002c0001t0032g0154
a0002c0001t0048g0022
 2 HG00544.hp2
HG02056.hp2
HG00544.hp2
HG02056.hp2
 intron_variant MODIFIER c.2577+1242G>C
c.2577+1242G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50684995
chr19:50685079 G
G
 A
A
 2 a0001c0003t0073g0071
a0001c0003t0099g0308
a0001c0003t0073g0071
a0001c0003t0099g0308
 2 HG01243.hp2
HG02976.hp2
HG01243.hp2
HG02976.hp2
 intron_variant MODIFIER c.2577+1158C>T
c.2577+1158C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685079
chr19:50685097 G
G
 A
A
 3 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
 3 HG02818.hp1
HG03453.hp1
HG03579.hp2
HG02818.hp1
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.2577+1140C>T
c.2577+1140C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685097
chr19:50685111 G
G
 A
A
 2 a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0013t0024g0122
a0001c0013t0024g0136
 2 HG03225.hp1
NA19240.hp2
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.2577+1126C>T
c.2577+1126C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685111
chr19:50685244 T
T
 C
C
 2 a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0013t0024g0122
a0001c0013t0024g0136
 2 HG03225.hp1
NA19240.hp2
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.2577+993A>G
c.2577+993A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685244
chr19:50685264 C
C
 A
A
 211 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(208): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0002g0125
a0002c0001t0002g0293
a0002c0001t0003g0148
a0002c0001t0004g0135
a0002c0001t0005g0128
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0087g0095
a0002c0001t0106g0311
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0067g0046
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0010c0029t0001g0204
a0011c0031t0029g0129
a0013c0027t0011g0228
a0014c0024t0078g0202
a0016c0035t0068g0041
a0017c0036t0002g0294
 212 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(209): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18974.hp2
NA18979.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19067.hp1
NA19074.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+973G>T
c.2577+973G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685264
chr19:50685274 G
G
 T
T
 5 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(2): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0102g0303
 5 HG01109.hp2
HG02109.hp2
HG02258.hp1
others(2): Show 
HG01109.hp2
HG02109.hp2
HG02258.hp1
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.2577+963C>A
c.2577+963C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685274
chr19:50685681 C
C
 T
T
 1 a0002c0001t0017g0133
a0002c0001t0017g0133
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.2577+556G>A
c.2577+556G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685681
chr19:50685703 G
G
 A
A
 2 a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0013t0024g0122
a0001c0013t0024g0136
 2 HG03225.hp1
NA19240.hp2
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.2577+534C>T
c.2577+534C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685703
chr19:50685727 A
A
 G
G
 78 a0001c0002t0001g0195
a0001c0002t0002g0108
a0001c0002t0002g0258
others(75): Show 
a0001c0002t0001g0195
a0001c0002t0002g0108
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0276
a0001c0002t0005g0259
a0001c0002t0009g0099
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0030g0246
a0001c0002t0033g0306
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0105g0304
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0044g0010
a0001c0003t0075g0289
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0014g0147
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0103g0310
a0001c0009t0004g0249
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0012t0014g0105
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0002g0293
a0002c0001t0003g0148
a0002c0001t0004g0135
a0002c0001t0008g0288
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0024g0247
a0002c0001t0065g0042
a0002c0001t0106g0311
a0003c0005t0002g0174
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0108g0309
a0016c0035t0068g0041
 78 HG00323.hp1
HG00323.hp2
HG00408.hp2
others(75): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01952.hp1
HG01993.hp2
HG02027.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02622.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18906.hp1
NA18962.hp1
NA18983.hp1
NA18997.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19011.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.2577+510T>C
c.2577+510T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685727
chr19:50685740 T
T
 A
A
 2 a0001c0016t0063g0040
a0006c0023t0012g0085
a0001c0016t0063g0040
a0006c0023t0012g0085
 2 HG01261.hp1
HG02257.hp2
HG01261.hp1
HG02257.hp2
 intron_variant MODIFIER c.2577+497A>T
c.2577+497A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685740
chr19:50685745 A
A
 G
G
 4 a0001c0003t0007g0065
a0001c0009t0007g0251
a0001c0009t0007g0270
others(1): Show 
a0001c0003t0007g0065
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0011t0006g0267
 4 HG01884.hp2
HG02630.hp2
HG02647.hp1
others(1): Show 
HG01884.hp2
HG02630.hp2
HG02647.hp1
NA19030.hp2
 intron_variant MODIFIER c.2577+492T>C
c.2577+492T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685745
chr19:50685751 T
T
 G
G
 1 a0002c0001t0005g0192
a0002c0001t0005g0192
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.2577+486A>C
c.2577+486A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685751
chr19:50685901 G
G
 A
A
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2577+336C>T
c.2577+336C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685901
chr19:50685977 G
G
 A
A
 3 a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
 3 HG02818.hp1
HG03453.hp1
HG03579.hp2
HG02818.hp1
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.2577+260C>T
c.2577+260C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50685977
chr19:50686038 G
G
 A
A
 1 a0017c0036t0002g0294
a0017c0036t0002g0294
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2577+199C>T
c.2577+199C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50686038
chr19:50686048 G
G
 GA
GA
 103 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(100): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0143
a0001c0002t0003g0196
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0131
a0001c0002t0011g0081
a0001c0002t0015g0114
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0079g0142
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0096g0297
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0002g0268
a0002c0001t0002g0296
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0017g0133
a0002c0001t0018g0262
a0002c0001t0029g0162
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0087g0095
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0017g0208
a0002c0008t0097g0298
a0002c0041t0013g0255
a0003c0005t0003g0241
a0003c0006t0014g0212
a0004c0017t0001g0001
a0007c0034t0007g0252
a0010c0029t0001g0204
a0011c0031t0029g0129
a0013c0027t0011g0228
 104 HG00140.hp1
HG00140.hp2
HG00423.hp1
others(101): Show 
HG00140.hp1
HG00140.hp2
HG00423.hp1
HG00423.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp2
HG02135.hp1
HG02257.hp1
HG02258.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02970.hp2
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG04228.hp1
NA18960.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18979.hp1
NA18979.hp2
NA18986.hp1
NA18998.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+188dupT
c.2577+188dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50686048
chr19:50686071 G
G
 C
C
 1 a0001c0004t0017g0245
a0001c0004t0017g0245
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.2577+166C>G
c.2577+166C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50686071
chr19:50686077 C
C
 T
T
 1 a0002c0001t0038g0005
a0002c0001t0038g0005
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.2577+160G>A
c.2577+160G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50686077
chr19:50686204 C
C
 G
G
 1 a0002c0008t0067g0046
a0002c0008t0067g0046
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.2577+33G>C
c.2577+33G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 21/23 chr19 50686204
chr19:50686488 T
T
 C
C
 1 a0001c0002t0037g0006
a0001c0002t0037g0006
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.2459-133A>G
c.2459-133A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 20/23 chr19 50686488
chr19:50686657 C
C
 A
A
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2458+87G>T
c.2458+87G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 20/23 chr19 50686657
chr19:50686689 G
G
 A
A
 1 a0001c0003t0001g0061
a0001c0003t0001g0061
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.2458+55C>T
c.2458+55C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 20/23 chr19 50686689
chr19:50686710 C
C
 G
G
 1 a0002c0001t0002g0275
a0002c0001t0002g0275
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.2458+34G>C
c.2458+34G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 20/23 chr19 50686710
chr19:50686916 C
C
 A
A
 1 a0002c0001t0001g0111
a0002c0001t0001g0111
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.2390-104G>T
c.2390-104G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 19/23 chr19 50686916
chr19:50686968 G
G
 C
C
 1 a0002c0001t0049g0023
a0002c0001t0049g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.2390-156C>G
c.2390-156C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 19/23 chr19 50686968
chr19:50687244 G
G
 A
A
 1 a0006c0023t0012g0085
a0006c0023t0012g0085
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2389+338C>T
c.2389+338C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 19/23 chr19 50687244
chr19:50687377 G
G
 C
C
 1 a0001c0003t0099g0308
a0001c0003t0099g0308
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2389+205C>G
c.2389+205C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 19/23 chr19 50687377
chr19:50687547 C
C
 A
A
 1 a0001c0002t0016g0112
a0001c0002t0016g0112
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.2389+35G>T
c.2389+35G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 19/23 chr19 50687547
chr19:50687676 G
G
 A
A
 2 a0001c0002t0001g0177
a0004c0017t0001g0001
a0001c0002t0001g0177
a0004c0017t0001g0001
 3 HG01070.hp2
HG01071.hp1
HG02257.hp1
HG01070.hp2
HG01071.hp1
HG02257.hp1
 intron_variant MODIFIER c.2309-14C>T
c.2309-14C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687676
chr19:50687682 A
A
 C
C
 13 a0001c0002t0003g0143
a0002c0001t0013g0121
a0002c0001t0013g0150
others(10): Show 
a0001c0002t0003g0143
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0017g0133
a0002c0001t0018g0262
a0002c0001t0029g0162
a0002c0001t0038g0005
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0017g0208
a0002c0008t0067g0046
a0002c0008t0097g0298
a0002c0041t0013g0255
 13 HG00621.hp2
HG02523.hp2
NA18966.hp1
others(10): Show 
HG00621.hp2
HG02523.hp2
NA18966.hp1
NA18966.hp2
NA18979.hp1
NA18979.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp1
NA19056.hp2
NA19067.hp1
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.2309-20T>G
c.2309-20T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687682
chr19:50687695 A
A
 G
G
 1 a0001c0003t0023g0078
a0001c0003t0023g0078
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.2309-33T>C
c.2309-33T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687695
chr19:50687734 C
C
 A
A
 1 a0001c0002t0006g0277
a0001c0002t0006g0277
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2309-72G>T
c.2309-72G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687734
chr19:50687742 G
G
 A
A
 1 a0002c0001t0002g0113
a0002c0001t0002g0113
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.2309-80C>T
c.2309-80C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687742
chr19:50687746 A
A
 G
G
 53 a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0132
others(50): Show 
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0132
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0099g0308
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0011g0048
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0019t0020g0235
a0002c0001t0001g0057
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0003c0005t0003g0241
a0003c0006t0012g0088
a0007c0034t0007g0252
a0008c0030t0071g0072
 53 HG00140.hp2
HG00323.hp2
HG01069.hp2
others(50): Show 
HG00140.hp2
HG00323.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG02109.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.2309-84T>C
c.2309-84T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687746
chr19:50687765 C
C
 G
G
 1 a0001c0003t0004g0054
a0001c0003t0004g0054
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.2309-103G>C
c.2309-103G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687765
chr19:50687800 A
A
 C
C
 1 a0001c0003t0004g0054
a0001c0003t0004g0054
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.2308+123T>G
c.2308+123T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687800
chr19:50687861 G
G
 A
A
 2 a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0097
a0001c0003t0004g0098
 2 HG01081.hp1
HG01243.hp1
HG01081.hp1
HG01243.hp1
 intron_variant MODIFIER c.2308+62C>T
c.2308+62C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687861
chr19:50687869 G
G
 A
A
 1 a0002c0001t0002g0296
a0002c0001t0002g0296
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.2308+54C>T
c.2308+54C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687869
chr19:50687915 A
A
 G
G
 21 a0001c0002t0001g0168
a0001c0002t0001g0195
a0001c0002t0001g0201
others(18): Show 
a0001c0002t0001g0168
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0003g0276
a0001c0002t0009g0099
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0003t0001g0061
a0001c0003t0003g0292
a0001c0003t0004g0224
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0010t0004g0183
a0001c0010t0004g0184
a0002c0001t0001g0057
a0002c0001t0002g0176
a0002c0001t0002g0273
a0003c0005t0003g0241
a0003c0005t0020g0149
 21 HG00323.hp2
HG00639.hp2
HG01069.hp2
others(18): Show 
HG00323.hp2
HG00639.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01168.hp1
HG01255.hp1
HG01515.hp1
HG02735.hp2
HG03017.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp2
NA18970.hp1
NA19067.hp2
NA20752.hp1
 splice_region_variant&intron_variant LOW c.2308+8T>C
c.2308+8T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 18/23 chr19 50687915
chr19:50688073 C
C
 A
A
 1 a0001c0003t0010g0158
a0001c0003t0010g0158
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.2173-15G>T
c.2173-15G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 17/23 chr19 50688073
chr19:50688147 G
G
 A
A
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2173-89C>T
c.2173-89C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 17/23 chr19 50688147
chr19:50688387 T
T
 C
C
 1 a0002c0001t0009g0146
a0002c0001t0009g0146
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.2173-329A>G
c.2173-329A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 17/23 chr19 50688387
chr19:50688473 C
C
 T
T
 7 a0001c0002t0009g0099
a0001c0003t0004g0097
a0001c0003t0004g0098
others(4): Show 
a0001c0002t0009g0099
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0006g0152
a0001c0003t0044g0010
a0002c0001t0002g0176
a0002c0001t0087g0095
 7 HG00639.hp2
HG00642.hp2
HG01081.hp1
others(4): Show 
HG00639.hp2
HG00642.hp2
HG01081.hp1
HG01099.hp1
HG01243.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2172+371G>A
c.2172+371G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 17/23 chr19 50688473
chr19:50688711 G
G
 A
A
 3 a0001c0003t0075g0289
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0003t0075g0289
a0001c0013t0024g0122
a0001c0013t0024g0136
 3 HG02280.hp1
HG03225.hp1
NA19240.hp2
HG02280.hp1
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.2172+133C>T
c.2172+133C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 17/23 chr19 50688711
chr19:50689183 C
C
 T
T
 1 a0001c0015t0027g0028
a0001c0015t0027g0028
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.2047+14G>A
c.2047+14G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 16/23 chr19 50689183
chr19:50689360 C
C
 T
T
 1 a0010c0029t0001g0204
a0010c0029t0001g0204
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1965-81G>A
c.1965-81G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50689360
chr19:50689882 C
C
 G
G
 1 a0001c0002t0033g0306
a0001c0002t0033g0306
 1 NA18997.hp2
NA18997.hp2
 intron_variant MODIFIER c.1965-603G>C
c.1965-603G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50689882
chr19:50689889 G
G
 A
A
 194 a0001c0002t0001g0091
a0001c0002t0001g0096
a0001c0002t0001g0118
others(191): Show 
a0001c0002t0001g0091
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0002g0153
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0002g0145
a0002c0001t0002g0155
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0211
a0002c0001t0002g0273
a0002c0001t0002g0296
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0005g0110
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0018g0167
a0002c0001t0019g0165
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0049g0023
a0002c0001t0055g0034
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0087g0095
a0002c0001t0089g0217
a0002c0001t0093g0156
a0002c0001t0106g0311
a0002c0008t0013g0207
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0241
a0003c0005t0032g0163
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0015c0033t0002g0186
a0016c0035t0068g0041
 195 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18960.hp1
NA18960.hp2
NA18970.hp1
NA18974.hp1
NA18983.hp1
NA18986.hp1
NA18986.hp2
NA18998.hp1
NA19000.hp2
NA19005.hp2
NA19009.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1965-610C>T
c.1965-610C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50689889
chr19:50689930 A
A
 C
C
 1 a0002c0001t0002g0176
a0002c0001t0002g0176
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1965-651T>G
c.1965-651T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50689930
chr19:50689952 C
C
 T
T
 3 a0001c0003t0003g0253
a0001c0014t0008g0230
a0012c0026t0060g0038
a0001c0003t0003g0253
a0001c0014t0008g0230
a0012c0026t0060g0038
 3 HG02055.hp1
HG03516.hp1
HG06807.hp1
HG02055.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1965-673G>A
c.1965-673G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50689952
chr19:50689990 A
A
 T
T
 2 a0001c0003t0025g0012
a0001c0004t0076g0244
a0001c0003t0025g0012
a0001c0004t0076g0244
 2 HG02896.hp2
NA18906.hp2
HG02896.hp2
NA18906.hp2
 intron_variant MODIFIER c.1965-711T>A
c.1965-711T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50689990
chr19:50690049 G
G
 C
C
 72 a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0002t0001g0139
others(69): Show 
a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0195
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0015g0114
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0037g0006
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0003t0003g0292
a0001c0003t0004g0224
a0001c0003t0007g0053
a0001c0003t0010g0158
a0001c0003t0079g0142
a0001c0003t0099g0308
a0001c0004t0001g0104
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0002g0178
a0002c0001t0002g0211
a0002c0001t0004g0135
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0018g0167
a0002c0001t0019g0225
a0002c0001t0055g0034
a0002c0001t0062g0037
a0002c0008t0013g0207
a0003c0005t0003g0100
a0003c0005t0003g0241
a0003c0006t0012g0088
a0003c0006t0045g0007
a0004c0017t0001g0001
a0010c0029t0001g0204
a0015c0033t0002g0186
a0016c0035t0068g0041
 73 HG00140.hp1
HG00323.hp2
HG00639.hp1
others(70): Show 
HG00140.hp1
HG00323.hp2
HG00639.hp1
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02074.hp2
HG02165.hp2
HG02257.hp1
HG02523.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02976.hp2
HG03017.hp2
HG03130.hp1
HG03225.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04199.hp2
HG04204.hp1
NA19005.hp2
NA19090.hp1
NA20805.hp1
 intron_variant MODIFIER c.1965-770C>G
c.1965-770C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50690049
chr19:50690168 A
A
 C
C
 1 a0001c0004t0007g0063
a0001c0004t0007g0063
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1965-889T>G
c.1965-889T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50690168
chr19:50690186 T
T
 C
C
 50 a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0189
others(47): Show 
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0189
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0276
a0001c0002t0009g0131
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0030g0132
a0001c0002t0034g0002
a0001c0002t0040g0009
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0084g0130
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0061
a0001c0003t0002g0153
a0001c0003t0004g0226
a0001c0003t0007g0065
a0001c0003t0022g0243
a0001c0003t0036g0004
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0004t0008g0049
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0014t0086g0242
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0002c0001t0002g0145
a0002c0001t0002g0273
a0002c0001t0005g0110
a0002c0001t0006g0141
a0002c0001t0056g0032
a0002c0001t0085g0170
a0002c0001t0106g0311
a0003c0005t0032g0163
a0003c0006t0006g0283
a0003c0006t0014g0212
a0003c0006t0101g0301
a0009c0025t0004g0282
a0011c0031t0029g0129
 50 HG00140.hp2
HG00423.hp1
HG00741.hp2
others(47): Show 
HG00140.hp2
HG00423.hp1
HG00741.hp2
HG01106.hp1
HG01106.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01256.hp1
HG01884.hp1
HG01891.hp2
HG01993.hp2
HG02055.hp2
HG02109.hp1
HG02129.hp1
HG02165.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02970.hp2
HG03017.hp1
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp2
NA18964.hp1
NA18970.hp1
NA18974.hp1
NA18986.hp1
NA18986.hp2
NA19000.hp2
NA19009.hp2
NA19011.hp1
NA19030.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.1965-907A>G
c.1965-907A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50690186
chr19:50690289 A
A
 G
G
 6 a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0064g0044
others(3): Show 
a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0019t0020g0235
a0002c0001t0011g0232
a0002c0001t0011g0233
 6 HG01109.hp2
HG02109.hp2
HG02723.hp1
others(3): Show 
HG01109.hp2
HG02109.hp2
HG02723.hp1
HG03041.hp1
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.1965-1010T>C
c.1965-1010T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50690289
chr19:50690830 A
A
 G
G
 2 a0001c0002t0002g0258
a0002c0001t0013g0121
a0001c0002t0002g0258
a0002c0001t0013g0121
 2 HG02129.hp1
NA19067.hp1
HG02129.hp1
NA19067.hp1
 intron_variant MODIFIER c.1965-1551T>C
c.1965-1551T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50690830
chr19:50690886 C
C
 G
G
 1 a0001c0003t0010g0158
a0001c0003t0010g0158
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1965-1607G>C
c.1965-1607G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50690886
chr19:50691129 G
G
 A
A
 2 a0002c0001t0015g0200
a0002c0001t0069g0045
a0002c0001t0015g0200
a0002c0001t0069g0045
 2 NA18969.hp1
NA19060.hp2
NA18969.hp1
NA19060.hp2
 intron_variant MODIFIER c.1965-1850C>T
c.1965-1850C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691129
chr19:50691155 G
G
 C
C
 1 a0001c0003t0003g0292
a0001c0003t0003g0292
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1965-1876C>G
c.1965-1876C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691155
chr19:50691291 A
A
 G
G
 68 a0001c0002t0001g0195
a0001c0002t0001g0250
a0001c0002t0002g0295
others(65): Show 
a0001c0002t0001g0195
a0001c0002t0001g0250
a0001c0002t0002g0295
a0001c0002t0003g0276
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0012g0134
a0001c0002t0018g0127
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0041g0016
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0003g0253
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0224
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0017g0086
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0074g0124
a0001c0003t0079g0142
a0001c0003t0110g0313
a0001c0004t0015g0066
a0001c0004t0017g0245
a0001c0004t0026g0018
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0040t0005g0206
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0296
a0002c0001t0005g0110
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0049g0023
a0002c0001t0059g0036
a0002c0001t0065g0042
a0002c0001t0089g0217
a0002c0001t0092g0215
a0003c0005t0003g0199
a0003c0006t0001g0248
a0003c0006t0012g0088
a0003c0006t0045g0007
a0007c0034t0007g0252
a0008c0030t0071g0072
a0010c0029t0001g0204
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 68 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(65): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01257.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01993.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04199.hp2
NA18612.hp2
NA18906.hp2
NA18950.hp2
NA18960.hp2
NA18983.hp2
NA19012.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1965-2012T>C
c.1965-2012T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691291
chr19:50691350 C
C
 G
G
 7 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0004t0011g0048
others(4): Show 
a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0080g0082
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0063g0040
 7 HG01261.hp1
HG01891.hp1
HG02451.hp2
others(4): Show 
HG01261.hp1
HG01891.hp1
HG02451.hp2
HG03471.hp1
HG03471.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.1965-2071G>C
c.1965-2071G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691350
chr19:50691398 T
T
 C
C
 4 a0001c0004t0080g0082
a0001c0014t0008g0230
a0001c0014t0086g0242
others(1): Show 
a0001c0004t0080g0082
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0063g0040
 4 HG01261.hp1
HG03471.hp1
HG03471.hp2
others(1): Show 
HG01261.hp1
HG03471.hp1
HG03471.hp2
HG06807.hp1
 intron_variant MODIFIER c.1965-2119A>G
c.1965-2119A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691398
chr19:50691421 A
A
 C
C
 12 a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0066g0043
others(9): Show 
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0066g0043
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0008g0062
a0001c0004t0016g0080
a0001c0004t0028g0274
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0038t0094g0287
a0011c0031t0029g0129
 12 HG02145.hp1
HG02258.hp1
HG02486.hp1
others(9): Show 
HG02145.hp1
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02717.hp1
HG02818.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1965-2142T>G
c.1965-2142T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691421
chr19:50691854 C
C
 CT
CT
 35 a0001c0002t0001g0093
a0001c0002t0001g0195
a0001c0002t0002g0258
others(32): Show 
a0001c0002t0001g0093
a0001c0002t0001g0195
a0001c0002t0002g0258
a0001c0002t0003g0196
a0001c0002t0006g0238
a0001c0002t0007g0269
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0019g0272
a0001c0002t0053g0030
a0001c0002t0105g0304
a0001c0003t0004g0054
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0017g0086
a0001c0003t0074g0124
a0001c0004t0028g0234
a0001c0009t0007g0270
a0001c0016t0063g0040
a0001c0020t0008g0260
a0002c0001t0002g0125
a0002c0001t0002g0211
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0005g0128
a0002c0001t0005g0219
a0002c0001t0013g0256
a0002c0001t0021g0019
a0002c0001t0049g0023
a0002c0001t0054g0031
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
 35 HG00735.hp1
HG00735.hp2
HG01081.hp2
others(32): Show 
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01261.hp1
HG01952.hp1
HG02129.hp1
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02735.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03927.hp2
HG04184.hp2
NA18970.hp1
NA18971.hp1
NA18997.hp1
NA18998.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19056.hp1
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.1965-2576dupA
c.1965-2576dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691854
chr19:50691895 C
C
 A
A
 1 a0001c0003t0004g0191
a0001c0003t0004g0191
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1965-2616G>T
c.1965-2616G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50691895
chr19:50692015 G
G
 C
C
 1 a0001c0003t0023g0078
a0001c0003t0023g0078
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1965-2736C>G
c.1965-2736C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692015
chr19:50692122 A
A
 G
G
 1 a0002c0001t0039g0014
a0002c0001t0039g0014
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1965-2843T>C
c.1965-2843T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692122
chr19:50692456 G
G
 GATATATA
others(3): Show 
GATATATATAT
 1 a0001c0002t0002g0295
a0001c0002t0002g0295
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1965-3187_1965-317
others(14): Show 
c.1965-3187_1965-3178dupATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(5): Show 
GATATATATATAT
 1 a0007c0034t0007g0252
a0007c0034t0007g0252
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1965-3189_1965-317
others(16): Show 
c.1965-3189_1965-3178dupATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(9): Show 
GATATATATATATATAT
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1965-3193_1965-317
others(20): Show 
c.1965-3193_1965-3178dupATATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(13): Show 
GATATATATATATATATATAT
 1 a0001c0004t0011g0048
a0001c0004t0011g0048
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1965-3178_1965-317
others(24): Show 
c.1965-3178_1965-3177insATATATATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(19): Show 
GATATATATATATATATATATATATAT
 4 a0001c0003t0102g0303
a0001c0013t0024g0122
a0001c0013t0024g0136
others(1): Show 
a0001c0003t0102g0303
a0001c0013t0024g0122
a0001c0013t0024g0136
a0002c0001t0054g0031
 4 HG02258.hp1
HG03225.hp1
HG03710.hp1
others(1): Show 
HG02258.hp1
HG03225.hp1
HG03710.hp1
NA19240.hp2
 intron_variant MODIFIER c.1965-3178_1965-317
others(30): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(21): Show 
GATATATATATATATATATATATATATAT
 6 a0001c0002t0006g0238
a0001c0002t0014g0198
a0001c0003t0004g0098
others(3): Show 
a0001c0002t0006g0238
a0001c0002t0014g0198
a0001c0003t0004g0098
a0001c0003t0008g0231
a0001c0003t0075g0289
a0002c0001t0008g0288
 6 HG00735.hp1
HG01243.hp1
HG02280.hp1
others(3): Show 
HG00735.hp1
HG01243.hp1
HG02280.hp1
HG02559.hp1
HG03098.hp2
HG03195.hp1
 intron_variant MODIFIER c.1965-3178_1965-317
others(32): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
AT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(23): Show 
GATATATATATATATATATATATATATATAT
 4 a0001c0002t0003g0276
a0001c0003t0099g0308
a0001c0009t0007g0270
others(1): Show 
a0001c0002t0003g0276
a0001c0003t0099g0308
a0001c0009t0007g0270
a0008c0030t0071g0072
 4 HG02647.hp1
HG02976.hp2
HG03017.hp1
others(1): Show 
HG02647.hp1
HG02976.hp2
HG03017.hp1
HG03195.hp2
 intron_variant MODIFIER c.1965-3178_1965-317
others(34): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(25): Show 
GATATATATATATATATATATATATATATATAT
 4 a0001c0003t0004g0097
a0001c0003t0023g0078
a0002c0001t0002g0211
others(1): Show 
a0001c0003t0004g0097
a0001c0003t0023g0078
a0002c0001t0002g0211
a0002c0001t0002g0275
 4 HG01081.hp1
HG02735.hp1
NA18522.hp2
others(1): Show 
HG01081.hp1
HG02735.hp1
NA18522.hp2
NA18971.hp1
 intron_variant MODIFIER c.1965-3178_1965-317
others(36): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(27): Show 
GATATATATATATATATATATATATATATATATAT
 5 a0001c0002t0001g0096
a0001c0002t0001g0195
a0001c0002t0040g0009
others(2): Show 
a0001c0002t0001g0096
a0001c0002t0001g0195
a0001c0002t0040g0009
a0002c0001t0013g0256
a0010c0029t0001g0204
 5 HG01081.hp2
HG01168.hp2
HG01169.hp2
others(2): Show 
HG01081.hp2
HG01168.hp2
HG01169.hp2
HG03654.hp1
NA19074.hp2
 intron_variant MODIFIER c.1965-3178_1965-317
others(38): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(29): Show 
GATATATATATATATATATATATATATATATATATAT
 5 a0001c0002t0001g0093
a0001c0002t0009g0099
a0001c0002t0010g0197
others(2): Show 
a0001c0002t0001g0093
a0001c0002t0009g0099
a0001c0002t0010g0197
a0001c0004t0028g0234
a0002c0001t0002g0296
 5 HG00423.hp2
HG00639.hp2
HG01106.hp2
others(2): Show 
HG00423.hp2
HG00639.hp2
HG01106.hp2
HG02280.hp2
HG02976.hp1
 intron_variant MODIFIER c.1965-3178_1965-317
others(40): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(31): Show 
GATATATATATATATATATATATATATATATATATATAT
 2 a0001c0002t0003g0196
a0001c0002t0105g0304
a0001c0002t0003g0196
a0001c0002t0105g0304
 2 HG00735.hp2
HG04184.hp2
HG00735.hp2
HG04184.hp2
 intron_variant MODIFIER c.1965-3178_1965-317
others(42): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(33): Show 
GATATATATATATATATATATATATATATATATATATATAT
 2 a0001c0003t0044g0010
a0002c0001t0059g0036
a0001c0003t0044g0010
a0002c0001t0059g0036
 2 HG01099.hp1
NA19084.hp1
HG01099.hp1
NA19084.hp1
 intron_variant MODIFIER c.1965-3178_1965-317
others(44): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(35): Show 
GATATATATATATATATATATATATATATATATATATATATAT
 1 a0001c0003t0004g0191
a0001c0003t0004g0191
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1965-3178_1965-317
others(46): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(37): Show 
GATATATATATATATATATATATATATATATATATATATATATAT
 2 a0001c0002t0015g0114
a0009c0025t0004g0282
a0001c0002t0015g0114
a0009c0025t0004g0282
 2 HG03516.hp2
NA19005.hp2
HG03516.hp2
NA19005.hp2
 intron_variant MODIFIER c.1965-3178_1965-317
others(48): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(39): Show 
GATATATATATATATATATATATATATATATATATATATATATATAT
 1 a0001c0003t0074g0124
a0001c0003t0074g0124
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1965-3178_1965-317
others(50): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 G
G
 GATATATA
others(41): Show 
GATATATATATATATATATATATATATATATATATATATATATATATAT
 1 a0001c0003t0017g0086
a0001c0003t0017g0086
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1965-3178_1965-317
others(52): Show 
c.1965-3178_1965-3177insATATATATATATATATATATATATAT
ATATATATATATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692456 GATAT
GATAT
 G
G
 3 a0001c0003t0001g0059
a0001c0003t0025g0012
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0003t0025g0012
a0001c0004t0010g0058
 3 HG01891.hp1
HG02896.hp2
NA21309.hp1
HG01891.hp1
HG02896.hp2
NA21309.hp1
 intron_variant MODIFIER c.1965-3181_1965-317
others(8): Show 
c.1965-3181_1965-3178delATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692456
chr19:50692472 T
T
 C
C
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1965-3193A>G
c.1965-3193A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692472
chr19:50692472 T
T
 TATATATA
others(27): Show 
TATATATATATATATATATATATATATATATATAC
 1 a0002c0001t0085g0170
a0002c0001t0085g0170
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.1965-3194_1965-319
others(38): Show 
c.1965-3194_1965-3193insGTATATATATATATATATATATATAT
ATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692472
chr19:50692472 T
T
 TATATATA
others(31): Show 
TATATATATATATATATATATATATATATATATATACAC
 2 a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0002g0125
a0002c0001t0005g0128
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.1965-3194_1965-319
others(42): Show 
c.1965-3194_1965-3193insGTGTATATATATATATATATATATAT
ATATATATATAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692472
chr19:50692474 C
C
 T
T
 27 a0001c0002t0001g0093
a0001c0002t0001g0195
a0001c0002t0002g0295
others(24): Show 
a0001c0002t0001g0093
a0001c0002t0001g0195
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0105g0304
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0008g0231
a0001c0003t0044g0010
a0001c0003t0073g0071
a0001c0003t0102g0303
a0001c0004t0011g0048
a0001c0004t0028g0234
a0001c0009t0007g0270
a0002c0001t0002g0211
a0002c0001t0002g0275
a0002c0001t0002g0296
a0002c0001t0013g0256
a0002c0001t0054g0031
a0002c0001t0059g0036
a0007c0034t0007g0252
a0008c0030t0071g0072
a0010c0029t0001g0204
 27 HG00423.hp2
HG00735.hp2
HG01081.hp1
others(24): Show 
HG00423.hp2
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01243.hp1
HG01243.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02647.hp1
HG02735.hp1
HG02896.hp1
HG02976.hp1
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03654.hp1
HG03710.hp1
HG04184.hp2
NA18960.hp2
NA18971.hp1
NA19005.hp2
NA19074.hp2
NA19084.hp1
 intron_variant MODIFIER c.1965-3195G>A
c.1965-3195G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692474
chr19:50692526 A
A
 G
G
 1 a0001c0021t0006g0102
a0001c0021t0006g0102
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1965-3247T>C
c.1965-3247T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692526
chr19:50692634 C
C
 T
T
 63 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
others(60): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0003t0003g0292
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0066g0043
a0001c0003t0082g0083
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0008g0062
a0001c0004t0016g0080
a0001c0004t0028g0274
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0021g0019
a0002c0001t0038g0005
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0041t0013g0255
a0003c0005t0003g0199
a0004c0017t0001g0001
a0005c0022t0001g0092
a0015c0033t0002g0186
 64 HG00140.hp1
HG00323.hp2
HG00408.hp1
others(61): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp2
NA18950.hp2
NA18966.hp2
NA18970.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp2
NA19000.hp2
NA19005.hp1
NA19007.hp2
NA19010.hp1
NA19056.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.1965-3355G>A
c.1965-3355G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692634
chr19:50692679 C
C
 T
T
 1 a0001c0003t0003g0292
a0001c0003t0003g0292
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1965-3400G>A
c.1965-3400G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692679
chr19:50692751 T
T
 C
C
 3 a0001c0003t0073g0071
a0001c0004t0011g0048
a0007c0034t0007g0252
a0001c0003t0073g0071
a0001c0004t0011g0048
a0007c0034t0007g0252
 3 HG01243.hp2
HG02451.hp2
HG02896.hp1
HG01243.hp2
HG02451.hp2
HG02896.hp1
 intron_variant MODIFIER c.1965-3472A>G
c.1965-3472A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692751
chr19:50692767 C
C
 T
T
 5 a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
others(2): Show 
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0004t0008g0062
a0001c0004t0028g0274
 5 HG02486.hp2
HG02818.hp2
HG02896.hp2
others(2): Show 
HG02486.hp2
HG02818.hp2
HG02896.hp2
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.1965-3488G>A
c.1965-3488G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692767
chr19:50692828 C
C
 G
G
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1965-3549G>C
c.1965-3549G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692828
chr19:50692855 C
C
 A
A
 1 a0001c0003t0022g0075
a0001c0003t0022g0075
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1965-3576G>T
c.1965-3576G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692855
chr19:50692867 T
T
 C
C
 1 a0001c0002t0052g0025
a0001c0002t0052g0025
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1965-3588A>G
c.1965-3588A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692867
chr19:50692872 G
G
 A
A
 1 a0001c0003t0010g0076
a0001c0003t0010g0076
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1965-3593C>T
c.1965-3593C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50692872
chr19:50693048 C
C
 T
T
 4 a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0041g0016
others(1): Show 
a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0041g0016
a0013c0027t0011g0228
 4 HG01074.hp2
HG01192.hp1
HG01257.hp1
others(1): Show 
HG01074.hp2
HG01192.hp1
HG01257.hp1
HG01496.hp2
 intron_variant MODIFIER c.1965-3769G>A
c.1965-3769G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693048
chr19:50693074 ATCCGTGG
others(5): Show 
ATCCGTGGAAACC
 A
A
 3 a0001c0002t0001g0181
a0001c0002t0010g0197
a0002c0001t0088g0281
a0001c0002t0001g0181
a0001c0002t0010g0197
a0002c0001t0088g0281
 3 HG01106.hp2
HG01516.hp2
HG01975.hp1
HG01106.hp2
HG01516.hp2
HG01975.hp1
 intron_variant MODIFIER c.1965-3807_1965-379
others(16): Show 
c.1965-3807_1965-3796delGGTTTCCACGGA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693074
chr19:50693078 G
G
 A
A
 1 a0001c0002t0012g0134
a0001c0002t0012g0134
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.1965-3799C>T
c.1965-3799C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693078
chr19:50693156 T
T
 C
C
 1 a0001c0004t0016g0064
a0001c0004t0016g0064
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1965-3877A>G
c.1965-3877A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693156
chr19:50693172 T
T
 C
C
 2 a0001c0003t0010g0284
a0003c0006t0006g0283
a0001c0003t0010g0284
a0003c0006t0006g0283
 2 HG02451.hp1
HG03041.hp2
HG02451.hp1
HG03041.hp2
 intron_variant MODIFIER c.1965-3893A>G
c.1965-3893A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693172
chr19:50693290 G
G
 A
A
 1 a0001c0002t0033g0306
a0001c0002t0033g0306
 1 NA18997.hp2
NA18997.hp2
 intron_variant MODIFIER c.1964+3806C>T
c.1964+3806C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693290
chr19:50693296 C
C
 T
T
 50 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
others(47): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0019g0272
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0003t0010g0284
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0008g0049
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0016t0063g0040
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0041t0013g0255
a0003c0005t0003g0199
a0003c0006t0006g0283
a0004c0017t0001g0001
a0005c0022t0001g0092
a0015c0033t0002g0186
 51 HG00140.hp1
HG00408.hp1
HG00621.hp1
others(48): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02109.hp1
HG02165.hp2
HG02257.hp1
HG02451.hp1
HG02523.hp1
HG03041.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03710.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp2
NA18950.hp2
NA18966.hp2
NA18970.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp2
NA19000.hp2
NA19007.hp2
NA19010.hp1
NA19056.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.1964+3800G>A
c.1964+3800G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693296
chr19:50693312 G
G
 A
A
 4 a0001c0003t0003g0292
a0001c0014t0008g0230
a0001c0014t0086g0242
others(1): Show 
a0001c0003t0003g0292
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0063g0040
 4 HG00323.hp2
HG01261.hp1
HG03471.hp1
others(1): Show 
HG00323.hp2
HG01261.hp1
HG03471.hp1
HG06807.hp1
 intron_variant MODIFIER c.1964+3784C>T
c.1964+3784C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693312
chr19:50693442 C
C
 T
T
 3 a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
 3 HG02809.hp1
HG03225.hp2
HG03579.hp1
HG02809.hp1
HG03225.hp2
HG03579.hp1
 intron_variant MODIFIER c.1964+3654G>A
c.1964+3654G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693442
chr19:50693585 A
A
 G
G
 9 a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
others(6): Show 
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0001c0038t0094g0287
a0002c0001t0008g0288
 9 HG02145.hp1
HG02258.hp2
HG02280.hp1
others(6): Show 
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp1
 intron_variant MODIFIER c.1964+3511T>C
c.1964+3511T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693585
chr19:50693637 CG
CG
 C
C
 314 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(311): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0143
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0002g0153
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0145
a0002c0001t0002g0151
a0002c0001t0002g0155
a0002c0001t0002g0159
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0144
a0002c0001t0005g0169
a0002c0001t0005g0192
a0002c0001t0005g0213
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0017g0133
a0002c0001t0018g0167
a0002c0001t0018g0262
a0002c0001t0019g0165
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0017
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0029g0162
a0002c0001t0032g0154
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0055g0034
a0002c0001t0056g0032
a0002c0001t0058g0035
a0002c0001t0059g0036
a0002c0001t0061g0039
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0093g0156
a0002c0001t0098g0299
a0002c0001t0106g0311
a0002c0001t0107g0305
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0017g0208
a0002c0008t0067g0046
a0002c0008t0097g0298
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 315 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(312): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1964+3458delC
c.1964+3458delC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693637
chr19:50693715 G
G
 T
T
 1 a0007c0034t0007g0252
a0007c0034t0007g0252
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1964+3381C>A
c.1964+3381C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693715
chr19:50693717 C
C
 T
T
 9 a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
others(6): Show 
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0001c0038t0094g0287
a0002c0001t0008g0288
 9 HG02145.hp1
HG02258.hp2
HG02280.hp1
others(6): Show 
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp1
 intron_variant MODIFIER c.1964+3379G>A
c.1964+3379G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50693717
chr19:50694019 C
C
 CCA
CCA
 57 a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0002g0108
others(54): Show 
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0006g0238
a0001c0002t0011g0081
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0030g0132
a0001c0002t0037g0006
a0001c0002t0052g0025
a0001c0002t0105g0304
a0001c0003t0003g0253
a0001c0003t0008g0231
a0001c0003t0010g0158
a0001c0003t0025g0012
a0001c0003t0044g0010
a0001c0003t0073g0071
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0008g0062
a0001c0004t0014g0147
a0001c0004t0026g0013
a0001c0009t0004g0249
a0002c0001t0002g0145
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0293
a0002c0001t0003g0160
a0002c0001t0005g0090
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0018g0167
a0002c0001t0019g0278
a0002c0001t0038g0005
a0002c0001t0046g0011
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0098g0299
a0002c0001t0107g0305
a0002c0008t0017g0208
a0003c0005t0020g0149
a0003c0005t0032g0163
a0003c0006t0005g0279
a0008c0030t0071g0072
a0018c0037t0005g0120
 57 HG00438.hp1
HG00597.hp1
HG00733.hp2
others(54): Show 
HG00438.hp1
HG00597.hp1
HG00733.hp2
HG00735.hp1
HG01099.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02027.hp1
HG02040.hp2
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02258.hp1
HG02486.hp2
HG02717.hp2
HG02735.hp1
HG02896.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18986.hp1
NA18986.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19067.hp1
NA19067.hp2
NA19089.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1964+3075_1964+307
others(6): Show 
c.1964+3075_1964+3076dupTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 C
C
 CCACA
CCACA
 17 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0003g0276
others(14): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0003g0276
a0001c0002t0009g0099
a0001c0002t0015g0114
a0001c0002t0018g0127
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0007t0007g0216
a0001c0009t0007g0270
a0002c0001t0002g0296
a0002c0001t0009g0146
a0002c0001t0021g0017
a0002c0001t0059g0036
a0002c0001t0062g0037
 17 HG00423.hp2
HG00639.hp1
HG00639.hp2
others(14): Show 
HG00423.hp2
HG00639.hp1
HG00639.hp2
HG01433.hp1
HG01981.hp1
HG02071.hp1
HG02074.hp1
HG02647.hp1
HG02738.hp1
HG02738.hp2
HG02970.hp1
HG03017.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp2
NA19005.hp2
NA19084.hp1
 intron_variant MODIFIER c.1964+3073_1964+307
others(8): Show 
c.1964+3073_1964+3076dupTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 C
C
 CCACACA
CCACACA
 5 a0001c0002t0001g0195
a0001c0002t0009g0180
a0001c0002t0109g0312
others(2): Show 
a0001c0002t0001g0195
a0001c0002t0009g0180
a0001c0002t0109g0312
a0002c0001t0001g0137
a0002c0001t0002g0159
 5 HG00438.hp2
HG00621.hp1
HG00673.hp2
others(2): Show 
HG00438.hp2
HG00621.hp1
HG00673.hp2
HG01081.hp2
HG02027.hp2
 intron_variant MODIFIER c.1964+3071_1964+307
others(10): Show 
c.1964+3071_1964+3076dupTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 C
C
 CCACACAC
others(3): Show 
CCACACACACA
 2 a0001c0004t0026g0018
a0003c0005t0014g0220
a0001c0004t0026g0018
a0003c0005t0014g0220
 2 HG01192.hp2
HG04228.hp2
HG01192.hp2
HG04228.hp2
 intron_variant MODIFIER c.1964+3067_1964+307
others(14): Show 
c.1964+3067_1964+3076dupTGTGTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 C
C
 CCACACAC
others(5): Show 
CCACACACACACA
 2 a0001c0002t0001g0201
a0001c0003t0035g0003
a0001c0002t0001g0201
a0001c0003t0035g0003
 2 HG01123.hp1
NA18964.hp2
HG01123.hp1
NA18964.hp2
 intron_variant MODIFIER c.1964+3065_1964+307
others(16): Show 
c.1964+3065_1964+3076dupTGTGTGTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCA
CCA
 C
C
 36 a0001c0002t0001g0119
a0001c0002t0001g0181
a0001c0002t0005g0116
others(33): Show 
a0001c0002t0001g0119
a0001c0002t0001g0181
a0001c0002t0005g0116
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0277
a0001c0002t0091g0115
a0001c0003t0004g0191
a0001c0003t0004g0254
a0001c0003t0010g0284
a0001c0003t0082g0083
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0011g0048
a0001c0004t0017g0245
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0007t0008g0237
a0001c0009t0007g0251
a0001c0011t0001g0280
a0002c0001t0002g0268
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0039g0014
a0002c0001t0069g0045
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0003c0005t0003g0117
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0108g0309
a0009c0025t0004g0282
a0016c0035t0068g0041
 36 HG00323.hp1
HG00408.hp2
HG00544.hp1
others(33): Show 
HG00323.hp1
HG00408.hp2
HG00544.hp1
HG01069.hp1
HG01496.hp1
HG01516.hp2
HG01884.hp2
HG01975.hp1
HG02109.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp2
HG02818.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03209.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp2
HG03704.hp2
HG03834.hp2
HG03942.hp2
HG04204.hp2
NA18906.hp2
NA18951.hp2
NA18969.hp1
NA18983.hp1
NA18998.hp1
NA19012.hp2
NA19043.hp2
NA19060.hp2
NA19074.hp2
 intron_variant MODIFIER c.1964+3075_1964+307
others(6): Show 
c.1964+3075_1964+3076delTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCACA
CCACA
 C
C
 65 a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0006g0236
others(62): Show 
a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0007g0269
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0002g0153
a0001c0003t0004g0054
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0010g0172
a0001c0003t0022g0243
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0004t0010g0058
a0001c0004t0015g0066
a0001c0004t0080g0082
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0022g0084
a0001c0011t0001g0052
a0001c0011t0006g0267
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0032t0018g0185
a0001c0040t0005g0206
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0288
a0002c0001t0017g0133
a0002c0001t0027g0029
a0002c0001t0047g0024
a0003c0005t0003g0100
a0003c0005t0003g0164
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0045g0007
a0003c0006t0101g0301
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
 65 HG00140.hp2
HG00597.hp2
HG00733.hp1
others(62): Show 
HG00140.hp2
HG00597.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02165.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
NA19007.hp1
NA19009.hp2
NA19030.hp2
NA19056.hp2
NA19089.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1964+3073_1964+307
others(8): Show 
c.1964+3073_1964+3076delTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCACACA
CCACACA
 C
C
 13 a0001c0002t0001g0093
a0001c0002t0003g0196
a0001c0002t0010g0197
others(10): Show 
a0001c0002t0001g0093
a0001c0002t0003g0196
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0003t0001g0061
a0001c0003t0007g0087
a0001c0003t0025g0008
a0001c0003t0036g0004
a0001c0018t0003g0126
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
 13 HG00735.hp2
HG00741.hp2
HG01106.hp1
others(10): Show 
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01106.hp2
HG01257.hp2
HG01258.hp1
HG01516.hp1
HG01517.hp1
HG01891.hp2
HG02109.hp2
HG02280.hp2
HG02559.hp1
NA19043.hp1
 intron_variant MODIFIER c.1964+3071_1964+307
others(10): Show 
c.1964+3071_1964+3076delTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCACACAC
others(1): Show 
CCACACACA
 C
C
 6 a0001c0002t0095g0070
a0001c0007t0012g0077
a0001c0014t0008g0230
others(3): Show 
a0001c0002t0095g0070
a0001c0007t0012g0077
a0001c0014t0008g0230
a0002c0001t0019g0225
a0003c0005t0016g0166
a0017c0036t0002g0294
 6 HG01074.hp1
HG02071.hp2
HG04199.hp2
others(3): Show 
HG01074.hp1
HG02071.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18970.hp2
 intron_variant MODIFIER c.1964+3069_1964+307
others(12): Show 
c.1964+3069_1964+3076delTGTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCACACAC
others(3): Show 
CCACACACACA
 C
C
 1 a0001c0018t0077g0123
a0001c0018t0077g0123
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1964+3067_1964+307
others(14): Show 
c.1964+3067_1964+3076delTGTGTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCACACAC
others(5): Show 
CCACACACACACA
 C
C
 2 a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0011g0050
a0001c0003t0012g0051
 2 HG03139.hp1
NA19030.hp1
HG03139.hp1
NA19030.hp1
 intron_variant MODIFIER c.1964+3065_1964+307
others(16): Show 
c.1964+3065_1964+3076delTGTGTGTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCACACAC
others(7): Show 
CCACACACACACACA
 C
C
 8 a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
others(5): Show 
a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0022g0075
a0001c0004t0016g0064
a0001c0004t0016g0080
a0002c0001t0002g0178
a0006c0023t0012g0085
 8 HG02145.hp2
HG02165.hp2
HG02257.hp2
others(5): Show 
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02559.hp2
HG02572.hp1
HG02965.hp1
HG02965.hp2
NA19240.hp1
 intron_variant MODIFIER c.1964+3063_1964+307
others(18): Show 
c.1964+3063_1964+3076delTGTGTGTGTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694019 CCACACAC
others(15): Show 
CCACACACACACACACACACACA
 C
C
 1 a0001c0003t0003g0292
a0001c0003t0003g0292
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1964+3055_1964+307
others(26): Show 
c.1964+3055_1964+3076delTGTGTGTGTGTGTGTGTGTGTG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694019
chr19:50694063 A
A
 G
G
 1 a0001c0004t0011g0048
a0001c0004t0011g0048
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1964+3033T>C
c.1964+3033T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694063
chr19:50694182 C
C
 G
G
 3 a0001c0002t0015g0114
a0001c0002t0052g0025
a0002c0001t0013g0121
a0001c0002t0015g0114
a0001c0002t0052g0025
a0002c0001t0013g0121
 3 HG02135.hp2
NA19005.hp2
NA19067.hp1
HG02135.hp2
NA19005.hp2
NA19067.hp1
 intron_variant MODIFIER c.1964+2914G>C
c.1964+2914G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694182
chr19:50694185 T
T
 A
A
 6 a0001c0002t0034g0002
a0001c0003t0023g0078
a0001c0003t0099g0308
others(3): Show 
a0001c0002t0034g0002
a0001c0003t0023g0078
a0001c0003t0099g0308
a0001c0013t0024g0122
a0001c0013t0024g0136
a0008c0030t0071g0072
 6 HG02976.hp2
HG03195.hp2
HG03225.hp1
others(3): Show 
HG02976.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp1
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.1964+2911A>T
c.1964+2911A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694185
chr19:50694828 G
G
 A
A
 1 a0010c0029t0001g0204
a0010c0029t0001g0204
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1964+2268C>T
c.1964+2268C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694828
chr19:50694841 C
C
 G
G
 54 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
others(51): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0002g0295
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0012g0134
a0001c0002t0019g0272
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0113
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0199
a0004c0017t0001g0001
a0005c0022t0001g0092
a0015c0033t0002g0186
 55 HG00140.hp1
HG00408.hp1
HG00621.hp1
others(52): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02523.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18950.hp2
NA18960.hp2
NA18966.hp2
NA18970.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp2
NA19000.hp2
NA19007.hp2
NA19010.hp1
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.1964+2255G>C
c.1964+2255G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694841
chr19:50694842 G
G
 C
C
 54 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
others(51): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0002g0295
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0012g0134
a0001c0002t0019g0272
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0113
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0199
a0004c0017t0001g0001
a0005c0022t0001g0092
a0015c0033t0002g0186
 55 HG00140.hp1
HG00408.hp1
HG00621.hp1
others(52): Show 
HG00140.hp1
HG00408.hp1
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02523.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18950.hp2
NA18960.hp2
NA18966.hp2
NA18970.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp2
NA19000.hp2
NA19007.hp2
NA19010.hp1
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.1964+2254C>G
c.1964+2254C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694842
chr19:50694879 G
G
 A
A
 2 a0001c0011t0001g0280
a0003c0006t0005g0279
a0001c0011t0001g0280
a0003c0006t0005g0279
 2 HG00323.hp1
HG04115.hp1
HG00323.hp1
HG04115.hp1
 intron_variant MODIFIER c.1964+2217C>T
c.1964+2217C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694879
chr19:50694882 G
G
 A
A
 1 a0001c0003t0003g0292
a0001c0003t0003g0292
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1964+2214C>T
c.1964+2214C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694882
chr19:50694883 G
G
 A
A
 1 a0001c0009t0007g0270
a0001c0009t0007g0270
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1964+2213C>T
c.1964+2213C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694883
chr19:50694887 C
C
 T
T
 1 a0001c0003t0008g0231
a0001c0003t0008g0231
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1964+2209G>A
c.1964+2209G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50694887
chr19:50695047 G
G
 GCGGCCCC
others(5): Show 
GCGGCCCCAGCCC
 1 a0003c0005t0032g0163
a0003c0005t0032g0163
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.1964+2037_1964+204
others(16): Show 
c.1964+2037_1964+2048dupGGGCTGGGGCCG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695047
chr19:50695181 A
A
 AG
AG
 37 a0001c0002t0001g0189
a0001c0002t0001g0203
a0001c0002t0005g0259
others(34): Show 
a0001c0002t0001g0189
a0001c0002t0001g0203
a0001c0002t0005g0259
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0018g0127
a0001c0002t0037g0006
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0105g0304
a0001c0003t0004g0191
a0001c0003t0007g0074
a0001c0003t0011g0050
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0004t0004g0182
a0001c0004t0017g0245
a0001c0004t0103g0310
a0001c0007t0070g0047
a0001c0012t0006g0103
a0001c0016t0063g0040
a0001c0039t0006g0107
a0002c0001t0005g0169
a0002c0001t0010g0263
a0002c0001t0015g0200
a0002c0001t0021g0019
a0002c0001t0027g0029
a0002c0001t0039g0014
a0002c0001t0049g0023
a0002c0008t0013g0207
a0003c0005t0043g0020
a0003c0006t0045g0007
a0003c0006t0101g0301
a0011c0031t0029g0129
a0012c0026t0060g0038
 37 HG00438.hp2
HG00544.hp1
HG00597.hp2
others(34): Show 
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00738.hp2
HG00741.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01516.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02486.hp1
HG02622.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18969.hp1
NA18997.hp1
NA19010.hp2
NA19030.hp1
NA19090.hp1
 intron_variant MODIFIER c.1964+1914dupC
c.1964+1914dupC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695181
chr19:50695205 A
A
 AC
AC
 7 a0001c0002t0001g0189
a0001c0002t0006g0109
a0001c0002t0009g0180
others(4): Show 
a0001c0002t0001g0189
a0001c0002t0006g0109
a0001c0002t0009g0180
a0001c0002t0018g0127
a0001c0016t0063g0040
a0002c0001t0021g0019
a0012c0026t0060g0038
 7 HG00438.hp2
HG01175.hp1
HG01261.hp1
others(4): Show 
HG00438.hp2
HG01175.hp1
HG01261.hp1
HG01993.hp1
HG02055.hp1
HG03209.hp2
NA18997.hp1
 intron_variant MODIFIER c.1964+1890dupG
c.1964+1890dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695205
chr19:50695251 G
G
 GGGGGCGC
others(8): Show 
GGGGGCGCGGGGGCGC
 1 a0001c0004t0076g0244
a0001c0004t0076g0244
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1964+1830_1964+184
others(19): Show 
c.1964+1830_1964+1844dupGCGCCCCCGCGCCCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695251
chr19:50695258 C
C
 CG
CG
 6 a0001c0002t0105g0304
a0002c0001t0019g0278
a0002c0001t0061g0039
others(3): Show 
a0001c0002t0105g0304
a0002c0001t0019g0278
a0002c0001t0061g0039
a0002c0001t0065g0042
a0002c0001t0088g0281
a0014c0024t0078g0202
 6 HG01975.hp1
HG02809.hp2
HG04184.hp2
others(3): Show 
HG01975.hp1
HG02809.hp2
HG04184.hp2
HG04199.hp1
NA18974.hp2
NA19000.hp1
 intron_variant MODIFIER c.1964+1837dupC
c.1964+1837dupC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695258
chr19:50695410 G
G
 C
C
 1 a0002c0008t0013g0207
a0002c0008t0013g0207
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.1964+1686C>G
c.1964+1686C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695410
chr19:50695480 G
G
 A
A
 1 a0001c0003t0112g0315
a0001c0003t0112g0315
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.1964+1616C>T
c.1964+1616C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695480
chr19:50695914 C
C
 A
A
 10 a0001c0003t0017g0086
a0001c0003t0066g0043
a0001c0003t0074g0124
others(7): Show 
a0001c0003t0017g0086
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0004t0011g0048
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0002c0001t0008g0288
 10 HG02145.hp1
HG02258.hp2
HG02280.hp1
others(7): Show 
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02886.hp1
HG03098.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.1964+1182G>T
c.1964+1182G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695914
chr19:50695965 C
C
 A
A
 258 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(255): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0295
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0111
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0002g0113
a0002c0001t0002g0155
a0002c0001t0002g0159
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0003g0148
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0017g0133
a0002c0001t0018g0167
a0002c0001t0018g0262
a0002c0001t0019g0165
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0017
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0061g0039
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0093g0156
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0032g0163
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0016c0035t0068g0041
 259 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(256): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18974.hp2
NA18983.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1964+1131G>T
c.1964+1131G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695965
chr19:50695981 C
C
 G
G
 8 a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
others(5): Show 
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0002c0001t0008g0288
 8 HG02145.hp1
HG02258.hp2
HG02280.hp1
others(5): Show 
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG03098.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.1964+1115G>C
c.1964+1115G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50695981
chr19:50696150 C
C
 T
T
 2 a0001c0003t0003g0292
a0001c0016t0063g0040
a0001c0003t0003g0292
a0001c0016t0063g0040
 2 HG00323.hp2
HG01261.hp1
HG00323.hp2
HG01261.hp1
 intron_variant MODIFIER c.1964+946G>A
c.1964+946G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696150
chr19:50696314 C
C
 T
T
 224 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(221): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0243
a0001c0003t0025g0008
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0017g0245
a0001c0004t0028g0234
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0151
a0002c0001t0002g0159
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0017g0133
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 225 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(222): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18983.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1964+782G>A
c.1964+782G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696314
chr19:50696343 G
G
 A
A
 1 a0001c0007t0007g0216
a0001c0007t0007g0216
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1964+753C>T
c.1964+753C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696343
chr19:50696413 C
C
 T
T
 10 a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0004t0007g0063
others(7): Show 
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0016t0063g0040
a0001c0020t0008g0260
a0001c0038t0094g0287
a0008c0030t0071g0072
 10 HG01261.hp1
HG02109.hp1
HG02258.hp1
others(7): Show 
HG01261.hp1
HG02109.hp1
HG02258.hp1
HG02886.hp2
HG02976.hp2
HG03195.hp2
HG03225.hp1
HG03486.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.1964+683G>A
c.1964+683G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696413
chr19:50696574 C
C
 T
T
 1 a0001c0003t0012g0051
a0001c0003t0012g0051
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1964+522G>A
c.1964+522G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696574
chr19:50696683 C
C
 T
T
 8 a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
others(5): Show 
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0002c0001t0008g0288
 8 HG02145.hp1
HG02258.hp2
HG02280.hp1
others(5): Show 
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG03098.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.1964+413G>A
c.1964+413G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696683
chr19:50696698 G
G
 A
A
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1964+398C>T
c.1964+398C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696698
chr19:50696713 C
C
 T
T
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1964+383G>A
c.1964+383G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696713
chr19:50696717 C
C
 T
T
 3 a0001c0002t0100g0300
a0001c0003t0001g0061
a0001c0003t0036g0004
a0001c0002t0100g0300
a0001c0003t0001g0061
a0001c0003t0036g0004
 3 HG00741.hp2
HG01106.hp1
HG03669.hp1
HG00741.hp2
HG01106.hp1
HG03669.hp1
 intron_variant MODIFIER c.1964+379G>A
c.1964+379G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696717
chr19:50696746 A
A
 T
T
 2 a0001c0002t0001g0096
a0001c0002t0040g0009
a0001c0002t0001g0096
a0001c0002t0040g0009
 2 HG01168.hp2
HG01169.hp2
HG01168.hp2
HG01169.hp2
 intron_variant MODIFIER c.1964+350T>A
c.1964+350T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696746
chr19:50696816 G
G
 A
A
 229 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(226): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0151
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0014g0220
a0003c0005t0020g0149
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 230 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(227): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18983.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1964+280C>T
c.1964+280C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696816
chr19:50696825 G
G
 C
C
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1964+271C>G
c.1964+271C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696825
chr19:50696888 G
G
 C
C
 28 a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0009g0222
others(25): Show 
a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0095g0070
a0001c0003t0004g0054
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0022g0243
a0001c0003t0081g0179
a0001c0003t0112g0315
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0005g0219
a0002c0001t0038g0005
a0002c0001t0089g0217
a0003c0006t0045g0007
a0013c0027t0011g0228
a0016c0035t0068g0041
 28 HG00642.hp2
HG01074.hp1
HG01074.hp2
others(25): Show 
HG00642.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01952.hp1
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02970.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03704.hp1
HG04228.hp1
NA18906.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19012.hp2
 intron_variant MODIFIER c.1964+208C>G
c.1964+208C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696888
chr19:50696941 A
A
 G
G
 2 a0001c0004t0011g0048
a0001c0016t0063g0040
a0001c0004t0011g0048
a0001c0016t0063g0040
 2 HG01261.hp1
HG02451.hp2
HG01261.hp1
HG02451.hp2
 intron_variant MODIFIER c.1964+155T>C
c.1964+155T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50696941
chr19:50697033 G
G
 GC
GC
 57 a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0006g0236
others(54): Show 
a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0004g0054
a0001c0003t0004g0079
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0087
a0001c0003t0022g0243
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0112g0315
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0015t0001g0101
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0002g0094
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0065g0042
a0002c0001t0087g0095
a0002c0001t0089g0217
a0003c0005t0003g0100
a0003c0006t0001g0248
a0003c0006t0012g0088
a0003c0006t0045g0007
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 57 HG00140.hp2
HG00642.hp2
HG00733.hp1
others(54): Show 
HG00140.hp2
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02486.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19012.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1964+62dupG
c.1964+62dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 15/23 chr19 50697033
chr19:50697127 C
C
 A
A
 1 a0001c0003t0012g0068
a0001c0003t0012g0068
 1 HG02818.hp1
HG02818.hp1
 splice_region_variant&intron_variant LOW c.1938-5G>T
c.1938-5G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 14/23 chr19 50697127
chr19:50697209 G
G
 A
A
 51 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(48): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0012g0134
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0008t0013g0207
a0003c0005t0003g0199
a0004c0017t0001g0001
a0006c0023t0012g0085
a0015c0033t0002g0186
 52 HG00140.hp1
HG00621.hp1
HG00639.hp1
others(49): Show 
HG00140.hp1
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02965.hp1
HG02965.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp2
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19056.hp1
NA19090.hp1
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.1938-87C>T
c.1938-87C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 14/23 chr19 50697209
chr19:50697407 G
G
 A
A
 1 a0011c0031t0029g0129
a0011c0031t0029g0129
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1937+182C>T
c.1937+182C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 14/23 chr19 50697407
chr19:50697513 T
T
 C
C
 2 a0001c0003t0010g0284
a0003c0006t0006g0283
a0001c0003t0010g0284
a0003c0006t0006g0283
 2 HG02451.hp1
HG03041.hp2
HG02451.hp1
HG03041.hp2
 intron_variant MODIFIER c.1937+76A>G
c.1937+76A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 14/23 chr19 50697513
chr19:50697537 G
G
 A
A
 1 a0001c0014t0008g0230
a0001c0014t0008g0230
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1937+52C>T
c.1937+52C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 14/23 chr19 50697537
chr19:50697549 T
T
 G
G
 4 a0001c0002t0009g0175
a0002c0001t0048g0022
a0002c0028t0020g0089
others(1): Show 
a0001c0002t0009g0175
a0002c0001t0048g0022
a0002c0028t0020g0089
a0003c0005t0002g0174
 4 HG02056.hp2
HG02074.hp2
HG02132.hp1
others(1): Show 
HG02056.hp2
HG02074.hp2
HG02132.hp1
NA19074.hp1
 intron_variant MODIFIER c.1937+40A>C
c.1937+40A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 14/23 chr19 50697549
chr19:50698134 C
C
 T
T
 1 a0002c0001t0009g0190
a0002c0001t0009g0190
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1748-178G>A
c.1748-178G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698134
chr19:50698183 C
C
 CTG
CTG
 33 a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
others(30): Show 
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0001c0011t0006g0267
a0001c0016t0072g0069
a0002c0001t0008g0288
a0003c0006t0101g0301
a0006c0023t0012g0085
a0008c0030t0071g0072
 33 HG00323.hp2
HG01109.hp2
HG01884.hp1
others(30): Show 
HG00323.hp2
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03516.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1748-229_1748-228d
others(4): Show 
c.1748-229_1748-228dupCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698183
chr19:50698225 A
A
 G
G
 19 a0001c0003t0010g0172
a0001c0003t0011g0050
a0001c0003t0012g0051
others(16): Show 
a0001c0003t0010g0172
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0004t0008g0062
a0001c0004t0028g0274
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0038t0094g0287
a0008c0030t0071g0072
 19 HG01109.hp2
HG01261.hp1
HG01891.hp2
others(16): Show 
HG01109.hp2
HG01261.hp1
HG01891.hp2
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02723.hp1
HG02818.hp2
HG02896.hp2
HG02970.hp2
HG02976.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03579.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.1748-269T>C
c.1748-269T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698225
chr19:50698227 T
T
 A
A
 2 a0002c0001t0003g0160
a0002c0001t0019g0165
a0002c0001t0003g0160
a0002c0001t0019g0165
 2 HG00673.hp1
NA18960.hp1
HG00673.hp1
NA18960.hp1
 intron_variant MODIFIER c.1748-271A>T
c.1748-271A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698227
chr19:50698252 G
G
 T
T
 2 a0001c0003t0012g0068
a0001c0009t0007g0270
a0001c0003t0012g0068
a0001c0009t0007g0270
 2 HG02647.hp1
HG02818.hp1
HG02647.hp1
HG02818.hp1
 intron_variant MODIFIER c.1748-296C>A
c.1748-296C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698252
chr19:50698311 C
C
 T
T
 79 a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
others(76): Show 
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0261
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0030g0132
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0105g0304
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0008g0231
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0004t0028g0234
a0001c0009t0007g0270
a0001c0011t0001g0280
a0001c0014t0008g0230
a0001c0014t0086g0242
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0005g0090
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0041t0013g0255
a0003c0005t0003g0117
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0017c0036t0002g0294
a0018c0037t0005g0120
 79 HG00323.hp1
HG00408.hp1
HG00423.hp2
others(76): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG02027.hp1
HG02071.hp2
HG02132.hp2
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03195.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18983.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA20129.hp2
 intron_variant MODIFIER c.1748-355G>A
c.1748-355G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698311
chr19:50698338 C
C
 G
G
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1748-382G>C
c.1748-382G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698338
chr19:50698463 C
C
 G
G
 1 a0001c0004t0016g0080
a0001c0004t0016g0080
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1748-507G>C
c.1748-507G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698463
chr19:50698465 T
T
 C
C
 1 a0001c0004t0011g0048
a0001c0004t0011g0048
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1748-509A>G
c.1748-509A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698465
chr19:50698510 C
C
 T
T
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1748-554G>A
c.1748-554G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698510
chr19:50698598 T
T
 C
C
 2 a0001c0003t0102g0303
a0001c0038t0094g0287
a0001c0003t0102g0303
a0001c0038t0094g0287
 2 HG02258.hp1
HG03486.hp1
HG02258.hp1
HG03486.hp1
 intron_variant MODIFIER c.1748-642A>G
c.1748-642A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698598
chr19:50698611 C
C
 T
T
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1748-655G>A
c.1748-655G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698611
chr19:50698656 G
G
 C
C
 1 a0008c0030t0071g0072
a0008c0030t0071g0072
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1748-700C>G
c.1748-700C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698656
chr19:50698688 G
G
 C
C
 1 a0008c0030t0071g0072
a0008c0030t0071g0072
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1748-732C>G
c.1748-732C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698688
chr19:50698904 C
C
 T
T
 4 a0001c0002t0018g0127
a0001c0007t0008g0237
a0001c0007t0042g0015
others(1): Show 
a0001c0002t0018g0127
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
 4 HG02809.hp1
HG03209.hp2
HG03225.hp2
others(1): Show 
HG02809.hp1
HG03209.hp2
HG03225.hp2
HG03579.hp1
 intron_variant MODIFIER c.1748-948G>A
c.1748-948G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50698904
chr19:50699262 G
G
 A
A
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1748-1306C>T
c.1748-1306C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699262
chr19:50699295 G
G
 A
A
 1 a0002c0001t0002g0178
a0002c0001t0002g0178
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1748-1339C>T
c.1748-1339C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699295
chr19:50699312 T
T
 C
C
 3 a0001c0004t0007g0063
a0001c0004t0008g0049
a0008c0030t0071g0072
a0001c0004t0007g0063
a0001c0004t0008g0049
a0008c0030t0071g0072
 3 HG02109.hp1
HG03195.hp2
NA19043.hp2
HG02109.hp1
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1748-1356A>G
c.1748-1356A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699312
chr19:50699509 G
G
 A
A
 2 a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0011g0050
a0001c0003t0012g0051
 2 HG03139.hp1
NA19030.hp1
HG03139.hp1
NA19030.hp1
 intron_variant MODIFIER c.1748-1553C>T
c.1748-1553C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699509
chr19:50699627 A
A
 G
G
 1 a0002c0001t0009g0190
a0002c0001t0009g0190
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1748-1671T>C
c.1748-1671T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699627
chr19:50699675 G
G
 T
T
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1748-1719C>A
c.1748-1719C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699675
chr19:50699681 T
T
 C
C
 1 a0003c0005t0016g0166
a0003c0005t0016g0166
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.1748-1725A>G
c.1748-1725A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699681
chr19:50699809 GGAGGGAT
others(18): Show 
GGAGGGATTGGGGCATTAGAGGATTA
 G
G
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1748-1878_1748-185
others(29): Show 
c.1748-1878_1748-1854delTAATCCTCTAATGCCCCAATCCCTC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699809
chr19:50699937 G
G
 A
A
 1 a0001c0015t0001g0101
a0001c0015t0001g0101
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1748-1981C>T
c.1748-1981C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699937
chr19:50699956 A
A
 G
G
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1748-2000T>C
c.1748-2000T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699956
chr19:50699962 GGGCTCGG
others(43): Show 
GGGCTCGGGGCATTGGAGGATTGGAGGGATCGGGGCATTGGAGGGTTGGA
A
 G
G
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1748-2056_1748-200
others(54): Show 
c.1748-2056_1748-2007delTTCCAACCCTCCAATGCCCCGATCCC
TCCAATCCTCCAATGCCCCGAGCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699962
chr19:50699965 CTCGGGGC
others(18): Show 
CTCGGGGCATTGGAGGATTGGAGGGA
 C
C
 7 a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
others(4): Show 
a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
a0001c0004t0015g0066
a0001c0011t0006g0267
a0001c0016t0072g0069
a0003c0006t0101g0301
 7 HG01884.hp1
HG02055.hp2
HG02630.hp2
others(4): Show 
HG01884.hp1
HG02055.hp2
HG02630.hp2
HG03130.hp2
HG03139.hp2
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.1748-2034_1748-201
others(29): Show 
c.1748-2034_1748-2010delTCCCTCCAATCCTCCAATGCCCCGA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699965
chr19:50699972 CATTGGAG
others(51): Show 
CATTGGAGGATTGGAGGGATCGGGGCATTGGAGGGTTGGAAGGCTCGGGG
CATTGGAGG
 C
C
 1 a0001c0003t0004g0254
a0001c0003t0004g0254
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1748-2074_1748-201
others(62): Show 
c.1748-2074_1748-2017delCCTCCAATGCCCCGAGCCTTCCAACC
CTCCAATGCCCCGATCCCTCCAATCCTCCAAT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699972
chr19:50699987 GGGATCGG
others(18): Show 
GGGATCGGGGCATTGGAGGGTTGGAA
 G
G
 1 a0001c0009t0022g0084
a0001c0009t0022g0084
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1748-2056_1748-203
others(29): Show 
c.1748-2056_1748-2032delTTCCAACCCTCCAATGCCCCGATCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699987
chr19:50699990 ATCGGGGC
others(43): Show 
ATCGGGGCATTGGAGGGTTGGAAGGCTCGGGGCATTGGAGGATTGGAGGG
C
 A
A
 100 a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
others(97): Show 
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0261
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0194
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0030g0132
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0105g0304
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0010g0172
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0007g0270
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0020t0008g0260
a0001c0038t0094g0287
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0005g0090
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0041t0013g0255
a0003c0005t0003g0117
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0108g0309
a0005c0022t0001g0092
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0017c0036t0002g0294
a0018c0037t0005g0120
 100 HG00323.hp1
HG00408.hp1
HG00423.hp2
others(97): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG02027.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18983.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19060.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1748-2084_1748-203
others(54): Show 
c.1748-2084_1748-2035delGCCCTCCAATCCTCCAATGCCCCGAG
CCTTCCAACCCTCCAATGCCCCGA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50699990
chr19:50700012 A
A
 G
G
 2 a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0002t0034g0002
a0001c0003t0003g0292
 2 HG00323.hp2
HG03490.hp1
HG00323.hp2
HG03490.hp1
 intron_variant MODIFIER c.1748-2056T>C
c.1748-2056T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700012
chr19:50700018 GGGGCATT
others(43): Show 
GGGGCATTGGAGGATTGGAGGGCTCGGGGCATTGGAGGGTTGGAAGGCTC
A
 G
G
 59 a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0002g0218
others(56): Show 
a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0004g0054
a0001c0003t0004g0079
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0007g0053
a0001c0003t0007g0087
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0243
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0112g0315
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0015t0001g0101
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0002g0094
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0065g0042
a0002c0001t0087g0095
a0002c0001t0089g0217
a0003c0005t0003g0100
a0003c0006t0001g0248
a0003c0006t0012g0088
a0003c0006t0045g0007
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 59 HG00140.hp2
HG00733.hp1
HG00738.hp1
others(56): Show 
HG00140.hp2
HG00733.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02486.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18986.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1748-2112_1748-206
others(54): Show 
c.1748-2112_1748-2063delTGAGCCTTCCAACCCTCCAATGCCCC
GAGCCCTCCAATCCTCCAATGCCC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700018
chr19:50700040 C
C
 A
A
 4 a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0003t0004g0254
others(1): Show 
a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0003t0004g0254
a0001c0009t0022g0084
 4 HG00323.hp2
HG02572.hp2
HG03490.hp1
others(1): Show 
HG00323.hp2
HG02572.hp2
HG03490.hp1
HG03540.hp2
 intron_variant MODIFIER c.1748-2084G>T
c.1748-2084G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700040
chr19:50700042 C
C
 T
T
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1748-2086G>A
c.1748-2086G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700042
chr19:50700043 G
G
 A
A
 7 a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
others(4): Show 
a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
a0001c0004t0015g0066
a0001c0011t0006g0267
a0001c0016t0072g0069
a0003c0006t0101g0301
 7 HG01884.hp1
HG02055.hp2
HG02630.hp2
others(4): Show 
HG01884.hp1
HG02055.hp2
HG02630.hp2
HG03130.hp2
HG03139.hp2
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.1748-2087C>T
c.1748-2087C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700043
chr19:50700068 A
A
 G
G
 3 a0001c0003t0004g0254
a0001c0003t0010g0076
a0001c0016t0063g0040
a0001c0003t0004g0254
a0001c0003t0010g0076
a0001c0016t0063g0040
 3 HG01261.hp1
HG02965.hp2
HG03540.hp2
HG01261.hp1
HG02965.hp2
HG03540.hp2
 intron_variant MODIFIER c.1748-2112T>C
c.1748-2112T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700068
chr19:50700081 A
A
 G
G
 4 a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0018t0003g0126
others(1): Show 
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0018t0003g0126
a0001c0018t0077g0123
 4 HG01891.hp2
HG02970.hp2
HG03139.hp1
others(1): Show 
HG01891.hp2
HG02970.hp2
HG03139.hp1
NA19030.hp1
 intron_variant MODIFIER c.1748-2125T>C
c.1748-2125T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700081
chr19:50700091 T
T
 C
C
 2 a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0002t0034g0002
a0001c0003t0003g0292
 2 HG00323.hp2
HG03490.hp1
HG00323.hp2
HG03490.hp1
 intron_variant MODIFIER c.1748-2135A>G
c.1748-2135A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700091
chr19:50700298 GAGGGCTC
others(18): Show 
GAGGGCTCGGGGCATTGGAGGATTGA
 G
G
 1 a0001c0002t0100g0300
a0001c0002t0100g0300
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1747+2144_1747+216
others(29): Show 
c.1747+2144_1747+2168delTCAATCCTCCAATGCCCCGAGCCCT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700298
chr19:50700355 C
C
 T
T
 80 a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
others(77): Show 
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0261
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0194
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0030g0132
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0105g0304
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0009t0007g0270
a0001c0011t0001g0280
a0001c0014t0008g0230
a0001c0014t0086g0242
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0005g0090
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0041t0013g0255
a0003c0005t0003g0117
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0017c0036t0002g0294
a0018c0037t0005g0120
 80 HG00323.hp1
HG00408.hp1
HG00423.hp2
others(77): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG02027.hp1
HG02071.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18983.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA20129.hp2
 intron_variant MODIFIER c.1747+2112G>A
c.1747+2112G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700355
chr19:50700494 C
C
 T
T
 1 a0001c0004t0014g0147
a0001c0004t0014g0147
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.1747+1973G>A
c.1747+1973G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700494
chr19:50700506 G
G
 A
A
 1 a0001c0003t0025g0012
a0001c0003t0025g0012
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1747+1961C>T
c.1747+1961C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700506
chr19:50700533 T
T
 C
C
 3 a0001c0004t0007g0063
a0001c0004t0008g0049
a0008c0030t0071g0072
a0001c0004t0007g0063
a0001c0004t0008g0049
a0008c0030t0071g0072
 3 HG02109.hp1
HG03195.hp2
NA19043.hp2
HG02109.hp1
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1747+1934A>G
c.1747+1934A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700533
chr19:50700792 C
C
 G
G
 5 a0001c0003t0066g0043
a0001c0003t0082g0083
a0001c0004t0080g0082
others(2): Show 
a0001c0003t0066g0043
a0001c0003t0082g0083
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
 5 HG02145.hp1
HG02258.hp2
HG02572.hp2
others(2): Show 
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.1747+1675G>C
c.1747+1675G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700792
chr19:50700875 C
C
 G
G
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1747+1592G>C
c.1747+1592G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50700875
chr19:50701117 T
T
 G
G
 7 a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
others(4): Show 
a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
a0001c0004t0015g0066
a0001c0011t0006g0267
a0001c0016t0072g0069
a0003c0006t0101g0301
 7 HG01884.hp1
HG02055.hp2
HG02630.hp2
others(4): Show 
HG01884.hp1
HG02055.hp2
HG02630.hp2
HG03130.hp2
HG03139.hp2
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.1747+1350A>C
c.1747+1350A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701117
chr19:50701193 CT
CT
 C
C
 198 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(195): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0003g0253
a0001c0003t0004g0054
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0007g0087
a0001c0003t0010g0172
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0243
a0001c0003t0025g0008
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0113
a0002c0001t0002g0145
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0144
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0014g0220
a0003c0006t0001g0248
a0003c0006t0012g0088
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0005c0022t0001g0092
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 198 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(195): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18951.hp1
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18997.hp1
NA18998.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1747+1273delA
c.1747+1273delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701193
chr19:50701193 CTT
CTT
 C
C
 7 a0001c0002t0034g0002
a0001c0002t0105g0304
a0001c0003t0001g0059
others(4): Show 
a0001c0002t0034g0002
a0001c0002t0105g0304
a0001c0003t0001g0059
a0001c0003t0007g0053
a0001c0019t0020g0235
a0002c0001t0002g0293
a0004c0017t0001g0001
 8 HG01070.hp2
HG01071.hp1
HG01515.hp1
others(5): Show 
HG01070.hp2
HG01071.hp1
HG01515.hp1
HG03041.hp1
HG03490.hp1
HG04184.hp2
NA19003.hp1
NA21309.hp1
 intron_variant MODIFIER c.1747+1272_1747+127
others(6): Show 
c.1747+1272_1747+1273delAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701193
chr19:50701348 A
A
 AT
AT
 54 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(51): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0209
a0001c0002t0002g0218
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0019g0272
a0001c0002t0030g0246
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0003t0006g0152
a0001c0003t0007g0065
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0103g0310
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0008g0055
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0021g0019
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0089g0217
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0199
a0003c0006t0006g0283
a0004c0017t0001g0001
a0015c0033t0002g0186
 55 HG00140.hp1
HG00438.hp2
HG00621.hp1
others(52): Show 
HG00140.hp1
HG00438.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02451.hp1
HG02523.hp1
HG02630.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04184.hp1
HG06807.hp1
NA18612.hp2
NA18966.hp2
NA18970.hp1
NA18986.hp1
NA18997.hp1
NA18998.hp2
NA19012.hp2
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.1747+1118dupA
c.1747+1118dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701348
chr19:50701348 AT
AT
 A
A
 86 a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
others(83): Show 
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0261
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0194
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0030g0132
a0001c0002t0031g0227
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0105g0304
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0007g0053
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0003t0099g0308
a0001c0009t0007g0270
a0001c0011t0001g0280
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0020t0008g0260
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0005g0090
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0041t0013g0255
a0003c0005t0003g0117
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0017c0036t0002g0294
a0018c0037t0005g0120
 86 HG00323.hp1
HG00408.hp1
HG00423.hp2
others(83): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp1
HG02027.hp1
HG02071.hp2
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18950.hp2
NA18964.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18983.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp2
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1747+1118delA
c.1747+1118delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701348
chr19:50701452 G
G
 A
A
 2 a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0007g0063
a0001c0004t0008g0049
 2 HG02109.hp1
NA19043.hp2
HG02109.hp1
NA19043.hp2
 intron_variant MODIFIER c.1747+1015C>T
c.1747+1015C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701452
chr19:50701552 T
T
 C
C
 1 a0001c0004t0011g0048
a0001c0004t0011g0048
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1747+915A>G
c.1747+915A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701552
chr19:50701594 AT
AT
 A
A
 47 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(44): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0019g0272
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0199
a0003c0006t0006g0283
a0004c0017t0001g0001
a0015c0033t0002g0186
 48 HG00140.hp1
HG00438.hp2
HG00621.hp1
others(45): Show 
HG00140.hp1
HG00438.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02451.hp1
HG02523.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04199.hp1
NA18612.hp2
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.1747+872delA
c.1747+872delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701594
chr19:50701655 G
G
 A
A
 1 a0009c0025t0004g0282
a0009c0025t0004g0282
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1747+812C>T
c.1747+812C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701655
chr19:50701755 T
T
 G
G
 1 a0001c0002t0014g0198
a0001c0002t0014g0198
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1747+712A>C
c.1747+712A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701755
chr19:50701770 C
C
 T
T
 1 a0001c0004t0080g0082
a0001c0004t0080g0082
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1747+697G>A
c.1747+697G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701770
chr19:50701840 A
A
 C
C
 83 a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
others(80): Show 
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0261
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0194
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0105g0304
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0003t0102g0303
a0001c0009t0007g0270
a0001c0011t0001g0280
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0063g0040
a0001c0038t0094g0287
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0005g0090
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0041t0013g0255
a0003c0005t0003g0117
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0017c0036t0002g0294
a0018c0037t0005g0120
 83 HG00323.hp1
HG00408.hp1
HG00423.hp2
others(80): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG02027.hp1
HG02071.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02258.hp1
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18969.hp1
NA18971.hp1
NA18983.hp1
NA18983.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA20129.hp2
 intron_variant MODIFIER c.1747+627T>G
c.1747+627T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701840
chr19:50701876 A
A
 T
T
 57 a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0002g0218
others(54): Show 
a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0004g0054
a0001c0003t0004g0079
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0087
a0001c0003t0022g0243
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0112g0315
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0015t0001g0101
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0002g0094
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0065g0042
a0002c0001t0087g0095
a0002c0001t0089g0217
a0003c0005t0003g0100
a0003c0006t0001g0248
a0003c0006t0012g0088
a0003c0006t0045g0007
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 57 HG00140.hp2
HG00733.hp1
HG00738.hp1
others(54): Show 
HG00140.hp2
HG00733.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02486.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02970.hp1
HG03041.hp1
HG03130.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18986.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp2
NA19012.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1747+591T>A
c.1747+591T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50701876
chr19:50702059 A
A
 G
G
 47 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(44): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0019g0272
a0001c0002t0084g0130
a0001c0002t0109g0312
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0199
a0003c0006t0006g0283
a0004c0017t0001g0001
a0015c0033t0002g0186
 48 HG00140.hp1
HG00438.hp2
HG00621.hp1
others(45): Show 
HG00140.hp1
HG00438.hp2
HG00621.hp1
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02451.hp1
HG02523.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04199.hp1
NA18612.hp2
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.1747+408T>C
c.1747+408T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50702059
chr19:50702151 G
G
 GTTGAGGG
others(2): Show 
GTTGAGGGAT
 159 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(156): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0261
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0084g0130
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0028g0274
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0113
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0006g0141
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0088g0281
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0015c0033t0002g0186
a0017c0036t0002g0294
a0018c0037t0005g0120
 160 HG00140.hp1
HG00323.hp1
HG00323.hp2
others(157): Show 
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18983.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1747+315_1747+316i
others(11): Show 
c.1747+315_1747+316insATCCCTCAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50702151
chr19:50702182 A
A
 G
G
 1 a0001c0003t0110g0313
a0001c0003t0110g0313
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1747+285T>C
c.1747+285T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50702182
chr19:50702333 C
C
 T
T
 1 a0001c0003t0007g0087
a0001c0003t0007g0087
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1747+134G>A
c.1747+134G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50702333
chr19:50702403 C
C
 A
A
 2 a0001c0019t0020g0235
a0001c0038t0094g0287
a0001c0019t0020g0235
a0001c0038t0094g0287
 2 HG03041.hp1
HG03486.hp1
HG03041.hp1
HG03486.hp1
 intron_variant MODIFIER c.1747+64G>T
c.1747+64G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 12/23 chr19 50702403
chr19:50702664 C
C
 T
T
 7 a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
others(4): Show 
a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0022g0075
a0001c0004t0016g0064
a0001c0004t0016g0080
a0006c0023t0012g0085
 7 HG02145.hp2
HG02257.hp2
HG02559.hp2
others(4): Show 
HG02145.hp2
HG02257.hp2
HG02559.hp2
HG02572.hp1
HG02965.hp1
HG02965.hp2
NA19240.hp1
 splice_region_variant&intron_variant LOW c.1554-4G>A
c.1554-4G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702664
chr19:50702706 GA
GA
 G
G
 8 a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
others(5): Show 
a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0022g0075
a0001c0004t0016g0064
a0001c0004t0016g0080
a0002c0001t0065g0042
a0006c0023t0012g0085
 8 HG02145.hp2
HG02257.hp2
HG02559.hp2
others(5): Show 
HG02145.hp2
HG02257.hp2
HG02559.hp2
HG02572.hp1
HG02809.hp2
HG02965.hp1
HG02965.hp2
NA19240.hp1
 intron_variant MODIFIER c.1554-47delT
c.1554-47delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702706
chr19:50702749 C
C
 T
T
 1 a0011c0031t0029g0129
a0011c0031t0029g0129
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1554-89G>A
c.1554-89G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702749
chr19:50702757 CA
CA
 C
C
 9 a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
others(6): Show 
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0099g0308
a0001c0004t0008g0062
a0001c0004t0028g0274
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0020t0008g0260
 9 HG02486.hp2
HG02818.hp2
HG02886.hp2
others(6): Show 
HG02486.hp2
HG02818.hp2
HG02886.hp2
HG02976.hp2
HG03225.hp1
HG03453.hp1
HG03579.hp2
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.1554-98delT
c.1554-98delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702757
chr19:50702796 A
A
 G
G
 236 a0001c0002t0001g0091
a0001c0002t0001g0096
a0001c0002t0001g0139
others(233): Show 
a0001c0002t0001g0091
a0001c0002t0001g0096
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0030g0246
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0002g0153
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0125
a0002c0001t0002g0145
a0002c0001t0002g0151
a0002c0001t0002g0155
a0002c0001t0002g0159
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0293
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0169
a0002c0001t0005g0213
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0017g0133
a0002c0001t0018g0167
a0002c0001t0018g0262
a0002c0001t0019g0165
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0017
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0029g0162
a0002c0001t0032g0154
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0048g0022
a0002c0001t0055g0034
a0002c0001t0056g0032
a0002c0001t0058g0035
a0002c0001t0061g0039
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0085g0170
a0002c0001t0087g0095
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0093g0156
a0002c0001t0098g0299
a0002c0001t0107g0305
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0017g0208
a0002c0008t0067g0046
a0002c0008t0097g0298
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0016g0166
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0004c0017t0001g0001
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0015c0033t0002g0186
a0016c0035t0068g0041
a0018c0037t0005g0120
 237 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(234): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18951.hp2
NA18960.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18974.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18986.hp1
NA18986.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19089.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1554-136T>C
c.1554-136T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702796
chr19:50702832 G
G
 A
A
 1 a0002c0001t0009g0146
a0002c0001t0009g0146
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1554-172C>T
c.1554-172C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702832
chr19:50702889 C
C
 T
T
 1 a0001c0007t0007g0216
a0001c0007t0007g0216
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1554-229G>A
c.1554-229G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702889
chr19:50702892 G
G
 A
A
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1554-232C>T
c.1554-232C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702892
chr19:50702906 C
C
 T
T
 2 a0001c0002t0009g0131
a0001c0002t0084g0130
a0001c0002t0009g0131
a0001c0002t0084g0130
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.1554-246G>A
c.1554-246G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50702906
chr19:50703125 T
T
 C
C
 117 a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0002t0001g0139
others(114): Show 
a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0003g0056
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0015g0114
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0041g0016
a0001c0002t0053g0030
a0001c0002t0084g0130
a0001c0002t0095g0070
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0081g0179
a0001c0003t0102g0303
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0096g0297
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0057
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0004g0135
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0089g0217
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0012g0088
a0004c0017t0001g0001
a0006c0023t0012g0085
a0008c0030t0071g0072
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0015c0033t0002g0186
 118 HG00140.hp1
HG00323.hp2
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18966.hp2
NA18986.hp1
NA18997.hp1
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19012.hp2
NA19056.hp1
NA19067.hp1
NA19074.hp1
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.1553+375A>G
c.1553+375A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50703125
chr19:50703352 A
A
 G
G
 1 a0003c0005t0014g0220
a0003c0005t0014g0220
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1553+148T>C
c.1553+148T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50703352
chr19:50703360 G
G
 A
A
 4 a0001c0003t0012g0051
a0001c0013t0024g0122
a0001c0013t0024g0136
others(1): Show 
a0001c0003t0012g0051
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0020t0008g0260
 4 HG02886.hp2
HG03139.hp1
HG03225.hp1
others(1): Show 
HG02886.hp2
HG03139.hp1
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.1553+140C>T
c.1553+140C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50703360
chr19:50703438 G
G
 A
A
 12 a0001c0002t0001g0119
a0001c0003t0010g0158
a0001c0010t0001g0285
others(9): Show 
a0001c0002t0001g0119
a0001c0003t0010g0158
a0001c0010t0001g0285
a0001c0010t0001g0286
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0088g0281
a0003c0006t0005g0279
 12 HG01069.hp1
HG01256.hp2
HG01257.hp2
others(9): Show 
HG01069.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG03490.hp2
HG03492.hp1
HG03831.hp2
HG04115.hp1
 intron_variant MODIFIER c.1553+62C>T
c.1553+62C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50703438
chr19:50703462 G
G
 A
A
 1 a0001c0004t0016g0080
a0001c0004t0016g0080
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1553+38C>T
c.1553+38C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 11/23 chr19 50703462
chr19:50703839 G
G
 A
A
 2 a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0187
a0002c0001t0002g0188
 2 HG01256.hp2
HG01258.hp2
HG01256.hp2
HG01258.hp2
 intron_variant MODIFIER c.1223-9C>T
c.1223-9C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 10/23 chr19 50703839
chr19:50703992 T
T
 C
C
 2 a0002c0001t0001g0111
a0002c0001t0046g0011
a0002c0001t0001g0111
a0002c0001t0046g0011
 2 HG00438.hp1
NA19011.hp2
HG00438.hp1
NA19011.hp2
 intron_variant MODIFIER c.1222+128A>G
c.1222+128A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 10/23 chr19 50703992
chr19:50704030 C
C
 T
T
 9 a0001c0002t0011g0081
a0001c0003t0073g0071
a0001c0003t0075g0289
others(6): Show 
a0001c0002t0011g0081
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0002c0001t0008g0288
 9 HG01243.hp2
HG02258.hp2
HG02280.hp1
others(6): Show 
HG01243.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG03098.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.1222+90G>A
c.1222+90G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 10/23 chr19 50704030
chr19:50704043 C
C
 T
T
 1 a0001c0002t0051g0026
a0001c0002t0051g0026
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1222+77G>A
c.1222+77G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 10/23 chr19 50704043
chr19:50704056 C
C
 A
A
 2 a0001c0002t0018g0127
a0001c0003t0102g0303
a0001c0002t0018g0127
a0001c0003t0102g0303
 2 HG02258.hp1
HG03209.hp2
HG02258.hp1
HG03209.hp2
 intron_variant MODIFIER c.1222+64G>T
c.1222+64G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 10/23 chr19 50704056
chr19:50704251 C
C
 T
T
 49 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(46): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0003g0056
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0003t0066g0043
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0016t0063g0040
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0021g0019
a0002c0001t0038g0005
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0092g0215
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0004c0017t0001g0001
a0015c0033t0002g0186
 50 HG00140.hp1
HG00438.hp2
HG00639.hp1
others(47): Show 
HG00140.hp1
HG00438.hp2
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02523.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG04115.hp2
HG04204.hp1
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19005.hp1
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1156-65G>A
c.1156-65G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 9/23 chr19 50704251
chr19:50704270 C
C
 T
T
 12 a0001c0003t0003g0253
a0001c0003t0004g0191
a0001c0003t0007g0065
others(9): Show 
a0001c0003t0003g0253
a0001c0003t0004g0191
a0001c0003t0007g0065
a0001c0003t0090g0067
a0001c0004t0015g0066
a0001c0011t0006g0267
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0038t0094g0287
a0003c0006t0101g0301
 12 HG01891.hp2
HG02055.hp2
HG02630.hp2
others(9): Show 
HG01891.hp2
HG02055.hp2
HG02630.hp2
HG02970.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp1
HG06807.hp1
NA19030.hp2
 intron_variant MODIFIER c.1156-84G>A
c.1156-84G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 9/23 chr19 50704270
chr19:50704285 A
A
 T
T
 1 a0002c0001t0054g0031
a0002c0001t0054g0031
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1156-99T>A
c.1156-99T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 9/23 chr19 50704285
chr19:50704289 C
C
 T
T
 5 a0001c0002t0057g0033
a0001c0015t0027g0028
a0002c0001t0005g0144
others(2): Show 
a0001c0002t0057g0033
a0001c0015t0027g0028
a0002c0001t0005g0144
a0002c0001t0005g0192
a0002c0001t0009g0146
 5 HG02074.hp1
NA18951.hp1
NA18962.hp2
others(2): Show 
HG02074.hp1
NA18951.hp1
NA18962.hp2
NA18964.hp1
NA19090.hp2
 intron_variant MODIFIER c.1156-103G>A
c.1156-103G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 9/23 chr19 50704289
chr19:50704371 A
A
 G
G
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1155+66T>C
c.1155+66T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 9/23 chr19 50704371
chr19:50704518 C
C
 T
T
 49 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(46): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0003g0056
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0003t0066g0043
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0016t0063g0040
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0021g0019
a0002c0001t0038g0005
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0092g0215
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0004c0017t0001g0001
a0015c0033t0002g0186
 50 HG00140.hp1
HG00438.hp2
HG00639.hp1
others(47): Show 
HG00140.hp1
HG00438.hp2
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02523.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG04115.hp2
HG04204.hp1
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19005.hp1
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
NA20752.hp2
 splice_region_variant&intron_variant LOW c.1078-4G>A
c.1078-4G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704518
chr19:50704571 C
C
 T
T
 5 a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
others(2): Show 
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0003c0006t0006g0283
 5 HG01109.hp2
HG02109.hp2
HG02451.hp1
others(2): Show 
HG01109.hp2
HG02109.hp2
HG02451.hp1
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.1078-57G>A
c.1078-57G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704571
chr19:50704630 C
C
 T
T
 2 a0001c0002t0018g0127
a0001c0003t0102g0303
a0001c0002t0018g0127
a0001c0003t0102g0303
 2 HG02258.hp1
HG03209.hp2
HG02258.hp1
HG03209.hp2
 intron_variant MODIFIER c.1078-116G>A
c.1078-116G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704630
chr19:50704689 C
C
 T
T
 13 a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0003t0010g0172
others(10): Show 
a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0102g0303
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0038t0094g0287
a0003c0006t0006g0283
 13 HG01109.hp2
HG01891.hp2
HG02109.hp2
others(10): Show 
HG01109.hp2
HG01891.hp2
HG02109.hp2
HG02258.hp1
HG02451.hp1
HG02723.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG06807.hp1
 intron_variant MODIFIER c.1078-175G>A
c.1078-175G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704689
chr19:50704701 A
A
 G
G
 1 a0001c0003t0025g0012
a0001c0003t0025g0012
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1078-187T>C
c.1078-187T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704701
chr19:50704744 A
A
 C
C
 1 a0001c0004t0028g0234
a0001c0004t0028g0234
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1078-230T>G
c.1078-230T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704744
chr19:50704761 A
A
 G
G
 15 a0001c0002t0001g0189
a0001c0002t0083g0229
a0001c0002t0104g0307
others(12): Show 
a0001c0002t0001g0189
a0001c0002t0083g0229
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0007g0087
a0001c0003t0079g0142
a0001c0015t0001g0101
a0002c0001t0002g0094
a0002c0001t0002g0211
a0002c0001t0005g0110
a0002c0001t0007g0221
a0002c0001t0019g0225
a0002c0001t0027g0029
a0002c0001t0087g0095
a0003c0005t0003g0100
 15 HG00140.hp2
HG00738.hp1
HG01175.hp1
others(12): Show 
HG00140.hp2
HG00738.hp1
HG01175.hp1
HG01981.hp2
HG02735.hp1
HG03239.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA19043.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1078-247T>C
c.1078-247T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704761
chr19:50704865 A
A
 G
G
 2 a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0002t0034g0002
a0001c0003t0003g0292
 2 HG00323.hp2
HG03490.hp1
HG00323.hp2
HG03490.hp1
 intron_variant MODIFIER c.1078-351T>C
c.1078-351T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704865
chr19:50704997 G
G
 A
A
 8 a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0003t0102g0303
others(5): Show 
a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0003t0102g0303
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0038t0094g0287
 8 HG01891.hp2
HG02258.hp1
HG02970.hp2
others(5): Show 
HG01891.hp2
HG02258.hp1
HG02970.hp2
HG03098.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG06807.hp1
 intron_variant MODIFIER c.1078-483C>T
c.1078-483C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50704997
chr19:50705018 G
G
 C
C
 1 a0003c0006t0014g0212
a0003c0006t0014g0212
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1078-504C>G
c.1078-504C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705018
chr19:50705170 G
G
 A
A
 1 a0002c0001t0013g0256
a0002c0001t0013g0256
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.1078-656C>T
c.1078-656C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705170
chr19:50705335 C
C
 CT
CT
 4 a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
others(1): Show 
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
 4 HG01891.hp2
HG02970.hp2
HG03471.hp1
others(1): Show 
HG01891.hp2
HG02970.hp2
HG03471.hp1
HG06807.hp1
 intron_variant MODIFIER c.1078-822dupA
c.1078-822dupA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705335
chr19:50705350 A
A
 T
T
 74 a0001c0002t0001g0119
a0001c0002t0001g0250
a0001c0002t0002g0218
others(71): Show 
a0001c0002t0001g0119
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0011g0081
a0001c0002t0018g0127
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0041g0016
a0001c0002t0095g0070
a0001c0003t0001g0059
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0243
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0064g0044
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0022g0084
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0032t0018g0185
a0001c0038t0094g0287
a0002c0001t0001g0057
a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0005g0219
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0024g0247
a0002c0001t0047g0024
a0002c0001t0089g0217
a0003c0005t0014g0220
a0003c0006t0001g0248
a0003c0006t0006g0283
a0003c0006t0012g0088
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 74 HG00733.hp1
HG01069.hp1
HG01074.hp1
others(71): Show 
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18986.hp1
NA19007.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1078-836T>A
c.1078-836T>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705350
chr19:50705362 G
G
 A
A
 1 a0013c0027t0011g0228
a0013c0027t0011g0228
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1078-848C>T
c.1078-848C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705362
chr19:50705388 T
T
 C
C
 42 a0001c0002t0001g0119
a0001c0002t0001g0209
a0001c0002t0001g0250
others(39): Show 
a0001c0002t0001g0119
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0041g0016
a0001c0002t0095g0070
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0022g0243
a0001c0003t0112g0315
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0005g0219
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0024g0247
a0002c0001t0047g0024
a0002c0001t0089g0217
a0003c0005t0014g0220
a0003c0006t0001g0248
a0003c0006t0012g0088
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 42 HG00733.hp1
HG01069.hp1
HG01074.hp1
others(39): Show 
HG00733.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG02055.hp1
HG02486.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02970.hp1
HG03130.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18986.hp1
NA19007.hp1
NA19012.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1078-874A>G
c.1078-874A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705388
chr19:50705416 T
T
 C
C
 2 a0001c0002t0018g0127
a0001c0003t0102g0303
a0001c0002t0018g0127
a0001c0003t0102g0303
 2 HG02258.hp1
HG03209.hp2
HG02258.hp1
HG03209.hp2
 intron_variant MODIFIER c.1078-902A>G
c.1078-902A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705416
chr19:50705580 C
C
 A
A
 1 a0001c0003t0025g0012
a0001c0003t0025g0012
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1078-1066G>T
c.1078-1066G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705580
chr19:50705605 C
C
 G
G
 1 a0002c0001t0002g0268
a0002c0001t0002g0268
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1078-1091G>C
c.1078-1091G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705605
chr19:50705695 A
A
 G
G
 3 a0001c0003t0010g0284
a0001c0019t0020g0235
a0003c0006t0006g0283
a0001c0003t0010g0284
a0001c0019t0020g0235
a0003c0006t0006g0283
 3 HG02451.hp1
HG03041.hp1
HG03041.hp2
HG02451.hp1
HG03041.hp1
HG03041.hp2
 intron_variant MODIFIER c.1078-1181T>C
c.1078-1181T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705695
chr19:50705725 C
C
 G
G
 1 a0002c0001t0038g0005
a0002c0001t0038g0005
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.1078-1211G>C
c.1078-1211G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705725
chr19:50705753 C
C
 T
T
 1 a0001c0003t0010g0076
a0001c0003t0010g0076
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1078-1239G>A
c.1078-1239G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705753
chr19:50705754 G
G
 A
A
 1 a0001c0004t0017g0245
a0001c0004t0017g0245
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1078-1240C>T
c.1078-1240C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705754
chr19:50705757 C
C
 T
T
 73 a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
others(70): Show 
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0002g0295
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0194
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0033g0302
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0109g0312
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0074g0124
a0001c0004t0028g0274
a0001c0004t0103g0310
a0001c0009t0007g0270
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0005g0090
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0019g0278
a0002c0001t0046g0011
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0069g0045
a0002c0001t0088g0281
a0002c0001t0106g0311
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0014c0024t0078g0202
a0017c0036t0002g0294
a0018c0037t0005g0120
 73 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(70): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01975.hp1
HG02027.hp1
HG02071.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18969.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18983.hp2
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA20129.hp2
 intron_variant MODIFIER c.1078-1243G>A
c.1078-1243G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705757
chr19:50705906 C
C
 T
T
 1 a0002c0001t0018g0262
a0002c0001t0018g0262
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.1078-1392G>A
c.1078-1392G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705906
chr19:50705922 C
C
 T
T
 54 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(51): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0003g0056
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0066g0043
a0001c0003t0090g0067
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0015g0066
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0016t0063g0040
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0021g0019
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0092g0215
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0006t0101g0301
a0004c0017t0001g0001
a0015c0033t0002g0186
 55 HG00140.hp1
HG00438.hp2
HG00639.hp1
others(52): Show 
HG00140.hp1
HG00438.hp2
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02523.hp1
HG02630.hp2
HG03130.hp2
HG03139.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1078-1408G>A
c.1078-1408G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705922
chr19:50705929 G
G
 A
A
 2 a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0002t0034g0002
a0001c0003t0003g0292
 2 HG00323.hp2
HG03490.hp1
HG00323.hp2
HG03490.hp1
 intron_variant MODIFIER c.1078-1415C>T
c.1078-1415C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50705929
chr19:50706108 T
T
 C
C
 7 a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
others(4): Show 
a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0022g0075
a0001c0004t0016g0064
a0001c0004t0016g0080
a0006c0023t0012g0085
 7 HG02145.hp2
HG02257.hp2
HG02559.hp2
others(4): Show 
HG02145.hp2
HG02257.hp2
HG02559.hp2
HG02572.hp1
HG02965.hp1
HG02965.hp2
NA19240.hp1
 intron_variant MODIFIER c.1078-1594A>G
c.1078-1594A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706108
chr19:50706182 G
G
 T
T
 2 a0001c0003t0004g0191
a0001c0038t0094g0287
a0001c0003t0004g0191
a0001c0038t0094g0287
 2 HG03098.hp1
HG03486.hp1
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.1078-1668C>A
c.1078-1668C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706182
chr19:50706412 G
G
 T
T
 1 a0011c0031t0029g0129
a0011c0031t0029g0129
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1078-1898C>A
c.1078-1898C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706412
chr19:50706523 C
C
 T
T
 1 a0002c0001t0018g0167
a0002c0001t0018g0167
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.1078-2009G>A
c.1078-2009G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706523
chr19:50706605 C
C
 T
T
 1 a0009c0025t0004g0282
a0009c0025t0004g0282
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1078-2091G>A
c.1078-2091G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706605
chr19:50706635 C
C
 T
T
 6 a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
others(3): Show 
a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
a0001c0004t0015g0066
a0001c0011t0006g0267
a0003c0006t0101g0301
 6 HG02055.hp2
HG02630.hp2
HG03130.hp2
others(3): Show 
HG02055.hp2
HG02630.hp2
HG03130.hp2
HG03139.hp2
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.1078-2121G>A
c.1078-2121G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706635
chr19:50706642 T
T
 C
C
 1 a0002c0001t0013g0121
a0002c0001t0013g0121
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.1078-2128A>G
c.1078-2128A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706642
chr19:50706644 T
T
 G
G
 1 a0002c0001t0021g0017
a0002c0001t0021g0017
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.1078-2130A>C
c.1078-2130A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706644
chr19:50706692 G
G
 A
A
 224 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(221): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 225 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(222): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1078-2178C>T
c.1078-2178C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706692
chr19:50706706 G
G
 C
C
 2 a0002c0001t0015g0200
a0002c0001t0069g0045
a0002c0001t0015g0200
a0002c0001t0069g0045
 2 NA18969.hp1
NA19060.hp2
NA18969.hp1
NA19060.hp2
 intron_variant MODIFIER c.1078-2192C>G
c.1078-2192C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706706
chr19:50706724 G
G
 A
A
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1078-2210C>T
c.1078-2210C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706724
chr19:50706727 T
T
 TA
TA
 6 a0001c0002t0002g0218
a0001c0003t0007g0053
a0002c0001t0002g0145
others(3): Show 
a0001c0002t0002g0218
a0001c0003t0007g0053
a0002c0001t0002g0145
a0002c0001t0013g0121
a0003c0005t0032g0163
a0003c0006t0101g0301
 6 HG01515.hp1
HG02055.hp2
NA18974.hp1
others(3): Show 
HG01515.hp1
HG02055.hp2
NA18974.hp1
NA18986.hp1
NA18986.hp2
NA19067.hp1
 intron_variant MODIFIER c.1078-2214dupT
c.1078-2214dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706727
chr19:50706727 TA
TA
 T
T
 49 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(46): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0003g0056
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0003t0066g0043
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0021g0019
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0092g0215
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0004c0017t0001g0001
a0015c0033t0002g0186
 50 HG00140.hp1
HG00438.hp2
HG00639.hp1
others(47): Show 
HG00140.hp1
HG00438.hp2
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02523.hp1
HG03239.hp2
HG03491.hp2
HG03492.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19005.hp1
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1078-2214delT
c.1078-2214delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706727
chr19:50706807 C
C
 T
T
 4 a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0004t0008g0062
others(1): Show 
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0004t0008g0062
a0002c0001t0065g0042
 4 HG02486.hp2
HG02809.hp2
HG03453.hp1
others(1): Show 
HG02486.hp2
HG02809.hp2
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.1078-2293G>A
c.1078-2293G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50706807
chr19:50707194 A
A
 G
G
 129 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(126): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0033g0302
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0109g0312
a0001c0003t0003g0253
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0007g0065
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0090g0067
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0015g0066
a0001c0004t0028g0274
a0001c0004t0103g0310
a0001c0009t0007g0270
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0113
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0088g0281
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0043g0020
a0003c0006t0005g0279
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0014c0024t0078g0202
a0015c0033t0002g0186
a0017c0036t0002g0294
a0018c0037t0005g0120
 130 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(127): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18983.hp2
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1078-2680T>C
c.1078-2680T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707194
chr19:50707236 A
A
 G
G
 215 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(212): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0087
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0017g0245
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 216 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(213): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1078-2722T>C
c.1078-2722T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707236
chr19:50707248 G
G
 C
C
 1 a0001c0019t0020g0235
a0001c0019t0020g0235
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1078-2734C>G
c.1078-2734C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707248
chr19:50707278 C
C
 T
T
 58 a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
others(55): Show 
a0001c0002t0001g0091
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0003g0056
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0066g0043
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0015g0066
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0193
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0004g0135
a0002c0001t0006g0141
a0002c0001t0009g0190
a0002c0001t0018g0262
a0002c0001t0021g0019
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0048g0022
a0002c0001t0056g0032
a0002c0001t0062g0037
a0002c0001t0092g0215
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0006t0101g0301
a0004c0017t0001g0001
a0015c0033t0002g0186
 59 HG00140.hp1
HG00438.hp2
HG00639.hp1
others(56): Show 
HG00140.hp1
HG00438.hp2
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02523.hp1
HG02630.hp2
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
NA18966.hp2
NA18970.hp1
NA18997.hp1
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.1078-2764G>A
c.1078-2764G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707278
chr19:50707507 G
G
 A
A
 2 a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0001g0250
a0001c0002t0006g0236
 2 HG01257.hp1
HG01496.hp2
HG01257.hp1
HG01496.hp2
 intron_variant MODIFIER c.1078-2993C>T
c.1078-2993C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707507
chr19:50707511 A
A
 G
G
 74 a0001c0002t0001g0119
a0001c0002t0001g0189
a0001c0002t0001g0250
others(71): Show 
a0001c0002t0001g0119
a0001c0002t0001g0189
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0006g0236
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0011g0081
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0041g0016
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0087
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0243
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0011g0048
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0022g0084
a0001c0019t0020g0235
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0002g0094
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0047g0024
a0002c0001t0087g0095
a0002c0001t0089g0217
a0003c0005t0003g0100
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0006t0001g0248
a0003c0006t0012g0088
a0008c0030t0071g0072
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0016c0035t0068g0041
 74 HG00140.hp2
HG00733.hp1
HG00738.hp1
others(71): Show 
HG00140.hp2
HG00733.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18986.hp1
NA19007.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1078-2997T>C
c.1078-2997T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707511
chr19:50707564 CT
CT
 C
C
 217 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(214): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0087
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0017g0245
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 218 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(215): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1078-3051delA
c.1078-3051delA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707564
chr19:50707619 G
G
 A
A
 1 a0011c0031t0029g0129
a0011c0031t0029g0129
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1078-3105C>T
c.1078-3105C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707619
chr19:50707621 C
C
 T
T
 2 a0001c0003t0010g0284
a0003c0006t0006g0283
a0001c0003t0010g0284
a0003c0006t0006g0283
 2 HG02451.hp1
HG03041.hp2
HG02451.hp1
HG03041.hp2
 intron_variant MODIFIER c.1078-3107G>A
c.1078-3107G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707621
chr19:50707656 G
G
 A
A
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1078-3142C>T
c.1078-3142C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707656
chr19:50707714 T
T
 A
A
 2 a0001c0002t0018g0127
a0001c0003t0102g0303
a0001c0002t0018g0127
a0001c0003t0102g0303
 2 HG02258.hp1
HG03209.hp2
HG02258.hp1
HG03209.hp2
 intron_variant MODIFIER c.1078-3200A>T
c.1078-3200A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707714
chr19:50707752 C
C
 T
T
 1 a0002c0001t0107g0305
a0002c0001t0107g0305
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.1078-3238G>A
c.1078-3238G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707752
chr19:50707824 C
C
 T
T
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1078-3310G>A
c.1078-3310G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707824
chr19:50707869 T
T
 C
C
 3 a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
 3 HG02280.hp1
HG02717.hp1
HG03098.hp2
HG02280.hp1
HG02717.hp1
HG03098.hp2
 intron_variant MODIFIER c.1078-3355A>G
c.1078-3355A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707869
chr19:50707876 T
T
 TTTTTC
TTTTTC
 4 a0001c0002t0003g0060
a0001c0002t0033g0306
a0001c0003t0036g0004
others(1): Show 
a0001c0002t0003g0060
a0001c0002t0033g0306
a0001c0003t0036g0004
a0002c0001t0019g0165
 4 HG00673.hp1
HG00741.hp2
HG01255.hp2
others(1): Show 
HG00673.hp1
HG00741.hp2
HG01255.hp2
NA18997.hp2
 intron_variant MODIFIER c.1078-3367_1078-336
others(9): Show 
c.1078-3367_1078-3363dupGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 T
T
 TTTTTCTT
others(3): Show 
TTTTTCTTTTC
 2 a0001c0011t0001g0280
a0003c0005t0016g0166
a0001c0011t0001g0280
a0003c0005t0016g0166
 2 HG00323.hp1
NA18970.hp2
HG00323.hp1
NA18970.hp2
 intron_variant MODIFIER c.1078-3372_1078-336
others(14): Show 
c.1078-3372_1078-3363dupGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 T
T
 TTTTTCTT
others(8): Show 
TTTTTCTTTTCTTTTC
 3 a0001c0002t0050g0027
a0001c0002t0100g0300
a0002c0001t0018g0167
a0001c0002t0050g0027
a0001c0002t0100g0300
a0002c0001t0018g0167
 3 HG00733.hp2
HG02738.hp2
HG03669.hp1
HG00733.hp2
HG02738.hp2
HG03669.hp1
 intron_variant MODIFIER c.1078-3377_1078-336
others(19): Show 
c.1078-3377_1078-3363dupGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 T
T
 TTTTTCTT
others(13): Show 
TTTTTCTTTTCTTTTCTTTTC
 1 a0001c0002t0009g0194
a0001c0002t0009g0194
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1078-3382_1078-336
others(24): Show 
c.1078-3382_1078-3363dupGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 T
T
 TTTTTCTT
others(18): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTC
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1078-3387_1078-336
others(29): Show 
c.1078-3387_1078-3363dupGAAAAGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 T
T
 TTTTTCTT
others(23): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 1 a0002c0001t0005g0169
a0002c0001t0005g0169
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1078-3392_1078-336
others(34): Show 
c.1078-3392_1078-3363dupGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 T
T
 TTTTTCTT
others(133): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 1 a0002c0001t0085g0170
a0002c0001t0085g0170
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.1078-3363_1078-336
others(144): Show 
c.1078-3363_1078-3362insGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 T
T
 TTTTTCTT
others(233): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 1 a0002c0001t0088g0281
a0002c0001t0088g0281
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.1078-3363_1078-336
others(244): Show 
c.1078-3363_1078-3362insGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTC
TTTTTC
 T
T
 21 a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0006g0277
others(18): Show 
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0006g0277
a0001c0002t0033g0302
a0001c0003t0001g0061
a0001c0004t0103g0310
a0001c0040t0005g0206
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0005g0213
a0002c0001t0017g0133
a0002c0001t0029g0162
a0002c0001t0107g0305
a0002c0008t0097g0298
a0003c0005t0003g0117
a0003c0005t0020g0214
a0003c0005t0032g0163
a0009c0025t0004g0282
a0014c0024t0078g0202
 21 HG01106.hp1
HG01123.hp1
HG01256.hp2
others(18): Show 
HG01106.hp1
HG01123.hp1
HG01256.hp2
HG01258.hp2
HG02056.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp1
NA18969.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA19003.hp1
NA19010.hp2
NA19056.hp2
NA19060.hp1
NA19084.hp2
NA19089.hp1
 intron_variant MODIFIER c.1078-3367_1078-336
others(9): Show 
c.1078-3367_1078-3363delGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(3): Show 
TTTTTCTTTTC
 T
T
 23 a0001c0002t0001g0118
a0001c0002t0003g0276
a0001c0002t0005g0116
others(20): Show 
a0001c0002t0001g0118
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0021g0021
a0001c0002t0091g0115
a0001c0003t0023g0240
a0001c0003t0035g0003
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0011t0001g0052
a0001c0038t0094g0287
a0002c0001t0001g0137
a0002c0001t0002g0159
a0002c0001t0003g0160
a0002c0001t0008g0055
a0002c0001t0061g0039
a0002c0001t0098g0299
a0002c0001t0106g0311
a0002c0008t0003g0205
a0002c0008t0067g0046
a0003c0006t0045g0007
a0018c0037t0005g0120
 23 HG00408.hp2
HG00423.hp1
HG00597.hp1
others(20): Show 
HG00408.hp2
HG00423.hp1
HG00597.hp1
HG00621.hp2
HG00673.hp2
HG01167.hp2
HG01884.hp2
HG02027.hp2
HG02135.hp1
HG02523.hp2
HG02647.hp1
HG03017.hp1
HG03239.hp1
HG03486.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
NA18960.hp1
NA18964.hp2
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19007.hp2
 intron_variant MODIFIER c.1078-3372_1078-336
others(14): Show 
c.1078-3372_1078-3363delGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(8): Show 
TTTTTCTTTTCTTTTC
 T
T
 35 a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
others(32): Show 
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0295
a0001c0002t0003g0157
a0001c0002t0005g0259
a0001c0002t0006g0236
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0053g0030
a0001c0002t0109g0312
a0001c0003t0002g0153
a0001c0003t0004g0054
a0001c0003t0010g0158
a0001c0003t0017g0086
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0019t0020g0235
a0002c0001t0002g0113
a0002c0001t0002g0155
a0002c0001t0002g0290
a0002c0001t0002g0296
a0002c0001t0005g0090
a0002c0001t0011g0233
a0002c0001t0015g0200
a0002c0001t0032g0154
a0002c0001t0055g0034
a0002c0001t0058g0035
a0002c0001t0059g0036
a0002c0001t0093g0156
a0002c0041t0013g0255
a0003c0005t0003g0199
 35 HG00423.hp2
HG00544.hp1
HG00544.hp2
others(32): Show 
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00621.hp1
HG01192.hp2
HG01257.hp1
HG01496.hp2
HG01952.hp1
HG01952.hp2
HG02027.hp1
HG02165.hp1
HG02622.hp1
HG02809.hp1
HG03041.hp1
HG03225.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp2
NA18612.hp1
NA18612.hp2
NA18950.hp1
NA18950.hp2
NA18960.hp2
NA18962.hp1
NA18969.hp1
NA18978.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19084.hp1
NA19089.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1078-3377_1078-336
others(19): Show 
c.1078-3377_1078-3363delGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(13): Show 
TTTTTCTTTTCTTTTCTTTTC
 T
T
 26 a0001c0002t0001g0093
a0001c0002t0001g0261
a0001c0002t0002g0258
others(23): Show 
a0001c0002t0001g0093
a0001c0002t0001g0261
a0001c0002t0002g0258
a0001c0002t0003g0196
a0001c0002t0005g0257
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0138
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0003t0006g0152
a0001c0003t0012g0068
a0001c0003t0023g0239
a0001c0003t0112g0315
a0001c0009t0004g0249
a0002c0001t0002g0151
a0002c0001t0002g0275
a0002c0001t0024g0247
a0002c0001t0046g0011
a0002c0001t0049g0023
a0002c0001t0069g0045
a0003c0006t0001g0248
a0003c0006t0012g0088
a0003c0006t0108g0309
a0012c0026t0060g0038
 26 HG00438.hp1
HG00642.hp2
HG00733.hp1
others(23): Show 
HG00438.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG01106.hp2
HG01993.hp2
HG02055.hp1
HG02129.hp1
HG02129.hp2
HG02280.hp2
HG02559.hp1
HG02818.hp1
HG03017.hp2
HG03130.hp1
HG03453.hp1
HG03486.hp2
HG03540.hp1
HG03927.hp2
HG04204.hp2
HG04228.hp1
NA18951.hp2
NA18971.hp1
NA18971.hp2
NA19060.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1078-3382_1078-336
others(24): Show 
c.1078-3382_1078-3363delGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(18): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 25 a0001c0002t0007g0269
a0001c0002t0041g0016
a0001c0002t0057g0033
others(22): Show 
a0001c0002t0007g0269
a0001c0002t0041g0016
a0001c0002t0057g0033
a0001c0002t0095g0070
a0001c0003t0010g0076
a0001c0003t0073g0071
a0001c0004t0008g0062
a0001c0004t0014g0147
a0001c0004t0017g0245
a0001c0004t0028g0274
a0001c0004t0096g0297
a0001c0015t0027g0028
a0002c0001t0001g0111
a0002c0001t0003g0148
a0002c0001t0005g0192
a0002c0001t0005g0219
a0002c0001t0009g0146
a0002c0001t0011g0232
a0002c0001t0013g0150
a0002c0001t0021g0017
a0003c0005t0020g0149
a0003c0006t0014g0212
a0006c0023t0012g0085
a0011c0031t0029g0129
a0017c0036t0002g0294
 25 HG01074.hp1
HG01192.hp1
HG01243.hp2
others(22): Show 
HG01074.hp1
HG01192.hp1
HG01243.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02132.hp2
HG02257.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02818.hp2
HG02965.hp2
HG03209.hp1
HG03491.hp1
NA18906.hp1
NA18962.hp2
NA18964.hp1
NA19003.hp2
NA19007.hp1
NA19011.hp2
NA19067.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.1078-3387_1078-336
others(29): Show 
c.1078-3387_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(23): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 27 a0001c0002t0002g0218
a0001c0002t0052g0025
a0001c0003t0001g0059
others(24): Show 
a0001c0002t0002g0218
a0001c0002t0052g0025
a0001c0003t0001g0059
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0010g0284
a0001c0003t0022g0075
a0001c0003t0082g0083
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0016g0064
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0001c0032t0018g0185
a0002c0001t0001g0057
a0002c0001t0002g0145
a0002c0001t0005g0144
a0002c0001t0056g0032
a0002c0001t0065g0042
a0002c0001t0089g0217
a0003c0005t0043g0020
a0005c0022t0001g0092
a0007c0034t0007g0252
a0008c0030t0071g0072
a0015c0033t0002g0186
 27 HG00408.hp1
HG00597.hp2
HG01515.hp1
others(24): Show 
HG00408.hp1
HG00597.hp2
HG01515.hp1
HG01891.hp1
HG02004.hp1
HG02135.hp2
HG02145.hp2
HG02258.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02735.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp2
HG03195.hp2
HG03471.hp2
HG03540.hp2
HG03710.hp2
NA18522.hp1
NA18951.hp1
NA18986.hp1
NA18986.hp2
NA19012.hp2
NA21309.hp1
 intron_variant MODIFIER c.1078-3392_1078-336
others(34): Show 
c.1078-3392_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(28): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 33 a0001c0002t0001g0181
a0001c0002t0003g0056
a0001c0002t0009g0131
others(30): Show 
a0001c0002t0001g0181
a0001c0002t0003g0056
a0001c0002t0009g0131
a0001c0002t0009g0180
a0001c0002t0011g0081
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0037g0006
a0001c0002t0084g0130
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0226
a0001c0003t0022g0243
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0081g0179
a0001c0003t0110g0313
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0016g0080
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0013t0024g0136
a0001c0018t0003g0126
a0001c0020t0008g0260
a0002c0001t0006g0141
a0002c0001t0039g0014
a0003c0006t0006g0283
a0013c0027t0011g0228
 33 HG00438.hp2
HG01069.hp2
HG01071.hp2
others(30): Show 
HG00438.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01256.hp1
HG01358.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp2
 intron_variant MODIFIER c.1078-3397_1078-336
others(39): Show 
c.1078-3397_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(33): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 49 a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0002t0001g0173
others(46): Show 
a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0009g0175
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0008g0231
a0001c0003t0010g0172
a0001c0003t0025g0008
a0001c0003t0064g0044
a0001c0003t0102g0303
a0001c0004t0001g0104
a0001c0012t0001g0106
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0014t0008g0230
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0039t0006g0107
a0002c0001t0002g0125
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0268
a0002c0001t0004g0135
a0002c0001t0005g0128
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0018g0262
a0002c0001t0038g0005
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0062g0037
a0002c0001t0092g0215
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0004c0017t0001g0001
a0016c0035t0068g0041
 50 HG00323.hp2
HG00639.hp1
HG00642.hp1
others(47): Show 
HG00323.hp2
HG00639.hp1
HG00642.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02109.hp2
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02723.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp2
HG03490.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG06807.hp1
NA18966.hp2
NA19005.hp1
NA19074.hp1
NA19090.hp1
NA20752.hp1
 intron_variant MODIFIER c.1078-3402_1078-336
others(44): Show 
c.1078-3402_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(38): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 15 a0001c0002t0001g0139
a0001c0002t0009g0171
a0001c0002t0018g0127
others(12): Show 
a0001c0002t0001g0139
a0001c0002t0009g0171
a0001c0002t0018g0127
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0023g0078
a0001c0003t0099g0308
a0001c0004t0028g0234
a0001c0012t0006g0103
a0001c0016t0072g0069
a0001c0018t0077g0123
a0001c0021t0006g0102
a0002c0001t0002g0273
a0002c0001t0021g0019
a0003c0005t0014g0220
 15 HG00140.hp1
HG01261.hp2
HG01884.hp1
others(12): Show 
HG00140.hp1
HG01261.hp2
HG01884.hp1
HG01981.hp1
HG02523.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp2
HG04228.hp2
NA18522.hp2
NA18970.hp1
NA18997.hp1
NA19030.hp1
 intron_variant MODIFIER c.1078-3407_1078-336
others(49): Show 
c.1078-3407_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(43): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
C
 T
T
 1 a0002c0001t0001g0193
a0002c0001t0001g0193
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1078-3412_1078-336
others(54): Show 
c.1078-3412_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(48): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTC
 T
T
 3 a0001c0002t0019g0272
a0001c0014t0086g0242
a0002c0001t0002g0271
a0001c0002t0019g0272
a0001c0014t0086g0242
a0002c0001t0002g0271
 3 HG03471.hp1
NA18998.hp2
NA19056.hp1
HG03471.hp1
NA18998.hp2
NA19056.hp1
 intron_variant MODIFIER c.1078-3417_1078-336
others(59): Show 
c.1078-3417_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707876 TTTTTCTT
others(53): Show 
TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
CTTTTCTTTTC
 T
T
 6 a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
others(3): Show 
a0001c0003t0003g0253
a0001c0003t0007g0065
a0001c0003t0090g0067
a0001c0004t0015g0066
a0001c0011t0006g0267
a0003c0006t0101g0301
 6 HG02055.hp2
HG02630.hp2
HG03130.hp2
others(3): Show 
HG02055.hp2
HG02630.hp2
HG03130.hp2
HG03139.hp2
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.1078-3422_1078-336
others(64): Show 
c.1078-3422_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707876
chr19:50707886 CTTTTCTT
others(6): Show 
CTTTTCTTTTCTTT
 C
C
 1 a0001c0002t0001g0195
a0001c0002t0001g0195
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1078-3385_1078-337
others(17): Show 
c.1078-3385_1078-3373delAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707886
chr19:50707886 CTTTTCTT
others(16): Show 
CTTTTCTTTTCTTTTCTTTTCTTT
 C
C
 1 a0002c0001t0027g0029
a0002c0001t0027g0029
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1078-3395_1078-337
others(27): Show 
c.1078-3395_1078-3373delAAAGAAAAGAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707886
chr19:50707886 CTTTTCTT
others(21): Show 
CTTTTCTTTTCTTTTCTTTTCTTTTCTTT
 C
C
 2 a0001c0002t0083g0229
a0001c0002t0104g0307
a0001c0002t0083g0229
a0001c0002t0104g0307
 2 HG00140.hp2
HG00738.hp1
HG00140.hp2
HG00738.hp1
 intron_variant MODIFIER c.1078-3400_1078-337
others(32): Show 
c.1078-3400_1078-3373delAAAGAAAAGAAAAGAAAAGAAAAGAA
AA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707886
chr19:50707886 CTTTTCTT
others(31): Show 
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT
 C
C
 1 a0001c0002t0001g0189
a0001c0002t0001g0189
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1078-3410_1078-337
others(42): Show 
c.1078-3410_1078-3373delAAAGAAAAGAAAAGAAAAGAAAAGAA
AAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707886
chr19:50707888 TTTCTTTT
others(6): Show 
TTTCTTTTCTTTTC
 T
T
 1 a0001c0002t0009g0099
a0001c0002t0009g0099
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1078-3387_1078-337
others(17): Show 
c.1078-3387_1078-3375delGAAAAGAAAAGAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707888
chr19:50707888 TTTCTTTT
others(11): Show 
TTTCTTTTCTTTTCTTTTC
 T
T
 7 a0001c0002t0001g0096
a0001c0002t0040g0009
a0001c0003t0004g0097
others(4): Show 
a0001c0002t0001g0096
a0001c0002t0040g0009
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0044g0010
a0003c0005t0003g0100
a0010c0029t0001g0204
 7 HG01081.hp1
HG01099.hp1
HG01168.hp2
others(4): Show 
HG01081.hp1
HG01099.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG03654.hp1
NA20805.hp1
 intron_variant MODIFIER c.1078-3392_1078-337
others(22): Show 
c.1078-3392_1078-3375delGAAAAGAAAAGAAAAGAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707888
chr19:50707888 TTTCTTTT
others(16): Show 
TTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 5 a0001c0002t0105g0304
a0001c0003t0007g0087
a0002c0001t0005g0110
others(2): Show 
a0001c0002t0105g0304
a0001c0003t0007g0087
a0002c0001t0005g0110
a0002c0001t0019g0225
a0003c0005t0003g0241
 5 HG01070.hp1
HG03942.hp1
HG04184.hp2
others(2): Show 
HG01070.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp2
NA19043.hp1
 intron_variant MODIFIER c.1078-3397_1078-337
others(27): Show 
c.1078-3397_1078-3375delGAAAAGAAAAGAAAAGAAAAGAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707888
chr19:50707888 TTTCTTTT
others(21): Show 
TTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 1 a0001c0003t0079g0142
a0001c0003t0079g0142
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1078-3402_1078-337
others(32): Show 
c.1078-3402_1078-3375delGAAAAGAAAAGAAAAGAAAAGAAAAG
AA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707888
chr19:50707888 TTTCTTTT
others(26): Show 
TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC
 T
T
 4 a0002c0001t0002g0094
a0002c0001t0002g0211
a0002c0001t0007g0221
others(1): Show 
a0002c0001t0002g0094
a0002c0001t0002g0211
a0002c0001t0007g0221
a0002c0001t0087g0095
 4 HG01981.hp2
HG02735.hp1
HG06807.hp2
others(1): Show 
HG01981.hp2
HG02735.hp1
HG06807.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1078-3407_1078-337
others(37): Show 
c.1078-3407_1078-3375delGAAAAGAAAAGAAAAGAAAAGAAAAG
AAAAGAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707888
chr19:50707891 C
C
 CTTTTCTT
others(5): Show 
CTTTTCTTTTCTT
 2 a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0001g0285
a0001c0010t0001g0286
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.1078-3389_1078-337
others(16): Show 
c.1078-3389_1078-3378dupAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707891
chr19:50707909 T
T
 C
C
 2 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0003t0001g0059
a0001c0004t0010g0058
 2 HG01891.hp1
NA21309.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1078-3395A>G
c.1078-3395A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707909
chr19:50707921 CTTTTCTT
others(34): Show 
CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT
 C
C
 1 a0001c0003t0025g0012
a0001c0003t0025g0012
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1077+3409_1078-340
others(45): Show 
c.1077+3409_1078-3408delAGAAAAGAAAAGAAAAGAAAAGAAAA
GAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707921
chr19:50707931 CTTTTCTT
others(7): Show 
CTTTTCTTTTCTTTT
 C
C
 1 a0001c0002t0051g0026
a0001c0002t0051g0026
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1077+3426_1078-341
others(18): Show 
c.1077+3426_1078-3418delAAAAGAAAAGAAAA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50707931
chr19:50708107 T
T
 C
C
 234 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(231): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0250
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0012g0077
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0056g0032
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0002c0008t0013g0207
a0002c0028t0020g0089
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 235 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(232): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19089.hp2
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1077+3264A>G
c.1077+3264A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708107
chr19:50708167 G
G
 C
C
 1 a0001c0002t0001g0118
a0001c0002t0001g0118
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1077+3204C>G
c.1077+3204C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708167
chr19:50708187 C
C
 T
T
 1 a0001c0007t0012g0077
a0001c0007t0012g0077
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1077+3184G>A
c.1077+3184G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708187
chr19:50708381 T
T
 C
C
 1 a0002c0001t0009g0190
a0002c0001t0009g0190
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1077+2990A>G
c.1077+2990A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708381
chr19:50708409 G
G
 T
T
 2 a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0002t0034g0002
a0001c0003t0003g0292
 2 HG00323.hp2
HG03490.hp1
HG00323.hp2
HG03490.hp1
 intron_variant MODIFIER c.1077+2962C>A
c.1077+2962C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708409
chr19:50708433 C
C
 T
T
 9 a0001c0003t0004g0191
a0001c0003t0025g0012
a0001c0003t0074g0124
others(6): Show 
a0001c0003t0004g0191
a0001c0003t0025g0012
a0001c0003t0074g0124
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0038t0094g0287
a0002c0001t0002g0125
a0002c0001t0005g0128
 9 HG01167.hp1
HG01169.hp1
HG01891.hp2
others(6): Show 
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp2
HG03098.hp1
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.1077+2938G>A
c.1077+2938G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708433
chr19:50708455 G
G
 A
A
 1 a0001c0020t0008g0260
a0001c0020t0008g0260
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1077+2916C>T
c.1077+2916C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708455
chr19:50708491 C
C
 G
G
 1 a0002c0001t0049g0023
a0002c0001t0049g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1077+2880G>C
c.1077+2880G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708491
chr19:50708492 C
C
 T
T
 1 a0001c0004t0011g0048
a0001c0004t0011g0048
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1077+2879G>A
c.1077+2879G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708492
chr19:50708533 G
G
 C
C
 2 a0002c0008t0017g0208
a0002c0008t0097g0298
a0002c0008t0017g0208
a0002c0008t0097g0298
 2 NA18966.hp1
NA19084.hp2
NA18966.hp1
NA19084.hp2
 intron_variant MODIFIER c.1077+2838C>G
c.1077+2838C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708533
chr19:50708763 C
C
 A
A
 2 a0001c0002t0018g0127
a0001c0003t0102g0303
a0001c0002t0018g0127
a0001c0003t0102g0303
 2 HG02258.hp1
HG03209.hp2
HG02258.hp1
HG03209.hp2
 intron_variant MODIFIER c.1077+2608G>T
c.1077+2608G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708763
chr19:50708940 T
T
 C
C
 1 a0001c0003t0004g0191
a0001c0003t0004g0191
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1077+2431A>G
c.1077+2431A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708940
chr19:50708991 C
C
 T
T
 2 a0001c0002t0018g0127
a0001c0003t0102g0303
a0001c0002t0018g0127
a0001c0003t0102g0303
 2 HG02258.hp1
HG03209.hp2
HG02258.hp1
HG03209.hp2
 intron_variant MODIFIER c.1077+2380G>A
c.1077+2380G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50708991
chr19:50709081 C
C
 T
T
 1 a0001c0004t0008g0049
a0001c0004t0008g0049
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1077+2290G>A
c.1077+2290G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709081
chr19:50709224 C
C
 T
T
 1 a0001c0015t0001g0101
a0001c0015t0001g0101
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1077+2147G>A
c.1077+2147G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709224
chr19:50709252 T
T
 C
C
 313 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(310): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0001g0173
a0001c0002t0001g0177
a0001c0002t0001g0181
a0001c0002t0001g0189
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0258
a0001c0002t0002g0295
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0003g0157
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0005g0161
a0001c0002t0005g0257
a0001c0002t0005g0259
a0001c0002t0006g0109
a0001c0002t0006g0140
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0131
a0001c0002t0009g0171
a0001c0002t0009g0175
a0001c0002t0009g0180
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0015g0138
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0132
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0033g0306
a0001c0002t0034g0002
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0053g0030
a0001c0002t0057g0033
a0001c0002t0083g0229
a0001c0002t0084g0130
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0002t0104g0307
a0001c0002t0105g0304
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0002g0153
a0001c0003t0003g0253
a0001c0003t0003g0292
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0191
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0006g0152
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0076
a0001c0003t0010g0158
a0001c0003t0010g0172
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0022g0243
a0001c0003t0023g0078
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0008
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0036g0004
a0001c0003t0044g0010
a0001c0003t0064g0044
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0079g0142
a0001c0003t0081g0179
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0003t0110g0313
a0001c0003t0112g0315
a0001c0004t0001g0104
a0001c0004t0004g0182
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0011g0048
a0001c0004t0014g0147
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0017g0245
a0001c0004t0026g0013
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0012g0077
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0004g0183
a0001c0010t0004g0184
a0001c0011t0001g0052
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0013t0024g0122
a0001c0013t0024g0136
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0016t0072g0069
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0032t0018g0185
a0001c0038t0094g0287
a0001c0039t0006g0107
a0001c0040t0005g0206
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0001g0137
a0002c0001t0001g0193
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0145
a0002c0001t0002g0151
a0002c0001t0002g0155
a0002c0001t0002g0159
a0002c0001t0002g0176
a0002c0001t0002g0178
a0002c0001t0002g0187
a0002c0001t0002g0188
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0003g0148
a0002c0001t0003g0160
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0144
a0002c0001t0005g0169
a0002c0001t0005g0192
a0002c0001t0005g0213
a0002c0001t0005g0219
a0002c0001t0006g0141
a0002c0001t0007g0221
a0002c0001t0008g0055
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0009g0146
a0002c0001t0009g0190
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0013g0150
a0002c0001t0013g0256
a0002c0001t0015g0200
a0002c0001t0017g0133
a0002c0001t0018g0167
a0002c0001t0018g0262
a0002c0001t0019g0165
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0017
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0029g0162
a0002c0001t0032g0154
a0002c0001t0038g0005
a0002c0001t0039g0014
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0055g0034
a0002c0001t0056g0032
a0002c0001t0058g0035
a0002c0001t0059g0036
a0002c0001t0061g0039
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0069g0045
a0002c0001t0085g0170
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0093g0156
a0002c0001t0098g0299
a0002c0001t0106g0311
a0002c0001t0107g0305
a0002c0008t0003g0205
a0002c0008t0013g0207
a0002c0008t0017g0208
a0002c0008t0067g0046
a0002c0008t0097g0298
a0002c0028t0020g0089
a0002c0041t0013g0255
a0003c0005t0002g0174
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0164
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0016g0166
a0003c0005t0020g0149
a0003c0005t0020g0214
a0003c0005t0032g0163
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0014g0212
a0003c0006t0045g0007
a0003c0006t0101g0301
a0003c0006t0108g0309
a0004c0017t0001g0001
a0005c0022t0001g0092
a0006c0023t0012g0085
a0007c0034t0007g0252
a0008c0030t0071g0072
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0015c0033t0002g0186
a0016c0035t0068g0041
a0017c0036t0002g0294
a0018c0037t0005g0120
 314 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(311): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1077+2119A>G
c.1077+2119A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709252
chr19:50709295 C
C
 A
A
 3 a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0016t0072g0069
a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0016t0072g0069
 3 HG01884.hp1
HG01891.hp1
NA21309.hp1
HG01884.hp1
HG01891.hp1
NA21309.hp1
 intron_variant MODIFIER c.1077+2076G>T
c.1077+2076G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709295
chr19:50709295 C
C
 T
T
 7 a0001c0003t0007g0087
a0001c0003t0079g0142
a0001c0003t0112g0315
others(4): Show 
a0001c0003t0007g0087
a0001c0003t0079g0142
a0001c0003t0112g0315
a0002c0001t0002g0094
a0002c0001t0087g0095
a0003c0005t0003g0241
a0007c0034t0007g0252
 7 HG01070.hp1
HG02896.hp1
HG03834.hp1
others(4): Show 
HG01070.hp1
HG02896.hp1
HG03834.hp1
HG04228.hp1
HG06807.hp2
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1077+2076G>A
c.1077+2076G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709295
chr19:50709316 C
C
 T
T
 1 a0001c0003t0007g0087
a0001c0003t0007g0087
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1077+2055G>A
c.1077+2055G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709316
chr19:50709324 G
G
 C
C
 1 a0010c0029t0001g0204
a0010c0029t0001g0204
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1077+2047C>G
c.1077+2047C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709324
chr19:50709363 A
A
 G
G
 1 a0001c0002t0001g0093
a0001c0002t0001g0093
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1077+2008T>C
c.1077+2008T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709363
chr19:50709376 A
A
 C
C
 3 a0001c0002t0001g0093
a0001c0003t0001g0059
a0001c0004t0010g0058
a0001c0002t0001g0093
a0001c0003t0001g0059
a0001c0004t0010g0058
 3 HG01891.hp1
HG02280.hp2
NA21309.hp1
HG01891.hp1
HG02280.hp2
NA21309.hp1
 intron_variant MODIFIER c.1077+1995T>G
c.1077+1995T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709376
chr19:50709384 G
G
 A
A
 4 a0001c0002t0001g0093
a0001c0003t0004g0191
a0001c0003t0010g0284
others(1): Show 
a0001c0002t0001g0093
a0001c0003t0004g0191
a0001c0003t0010g0284
a0003c0006t0006g0283
 4 HG02280.hp2
HG02451.hp1
HG03041.hp2
others(1): Show 
HG02280.hp2
HG02451.hp1
HG03041.hp2
HG03098.hp1
 intron_variant MODIFIER c.1077+1987C>T
c.1077+1987C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709384
chr19:50709420 C
C
 T
T
 1 a0001c0004t0096g0297
a0001c0004t0096g0297
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1077+1951G>A
c.1077+1951G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709420
chr19:50709437 G
G
 T
T
 3 a0001c0003t0066g0043
a0001c0014t0086g0242
a0001c0038t0094g0287
a0001c0003t0066g0043
a0001c0014t0086g0242
a0001c0038t0094g0287
 3 HG02145.hp1
HG03471.hp1
HG03486.hp1
HG02145.hp1
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.1077+1934C>A
c.1077+1934C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709437
chr19:50709556 A
A
 G
G
 1 a0001c0003t0004g0254
a0001c0003t0004g0254
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1077+1815T>C
c.1077+1815T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709556
chr19:50709814 G
G
 A
A
 6 a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0003t0066g0043
others(3): Show 
a0001c0002t0018g0127
a0001c0003t0004g0191
a0001c0003t0066g0043
a0001c0003t0102g0303
a0001c0004t0011g0048
a0001c0038t0094g0287
 6 HG02145.hp1
HG02258.hp1
HG02451.hp2
others(3): Show 
HG02145.hp1
HG02258.hp1
HG02451.hp2
HG03098.hp1
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.1077+1557C>T
c.1077+1557C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709814
chr19:50709840 C
C
 T
T
 5 a0001c0003t0066g0043
a0001c0004t0011g0048
a0001c0038t0094g0287
others(2): Show 
a0001c0003t0066g0043
a0001c0004t0011g0048
a0001c0038t0094g0287
a0002c0001t0006g0141
a0002c0001t0056g0032
 5 HG02145.hp1
HG02451.hp2
HG03486.hp1
others(2): Show 
HG02145.hp1
HG02451.hp2
HG03486.hp1
HG03710.hp2
HG04115.hp2
 intron_variant MODIFIER c.1077+1531G>A
c.1077+1531G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709840
chr19:50709887 C
C
 T
T
 1 a0001c0002t0007g0269
a0001c0002t0007g0269
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1077+1484G>A
c.1077+1484G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709887
chr19:50709889 G
G
 C
C
 1 a0001c0003t0004g0191
a0001c0003t0004g0191
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1077+1482C>G
c.1077+1482C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709889
chr19:50709910 T
T
 A
A
 1 a0001c0002t0006g0140
a0001c0002t0006g0140
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1077+1461A>T
c.1077+1461A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709910
chr19:50709975 G
G
 A
A
 10 a0001c0003t0001g0059
a0001c0003t0025g0012
a0001c0003t0074g0124
others(7): Show 
a0001c0003t0001g0059
a0001c0003t0025g0012
a0001c0003t0074g0124
a0001c0004t0010g0058
a0001c0014t0086g0242
a0001c0018t0003g0126
a0001c0018t0077g0123
a0002c0001t0002g0125
a0002c0001t0005g0128
a0011c0031t0029g0129
 10 HG01167.hp1
HG01169.hp1
HG01891.hp1
others(7): Show 
HG01167.hp1
HG01169.hp1
HG01891.hp1
HG01891.hp2
HG02486.hp1
HG02886.hp1
HG02896.hp2
HG02970.hp2
HG03471.hp1
NA21309.hp1
 intron_variant MODIFIER c.1077+1396C>T
c.1077+1396C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50709975
chr19:50710052 G
G
 A
A
 1 a0002c0001t0005g0192
a0002c0001t0005g0192
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1077+1319C>T
c.1077+1319C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710052
chr19:50710054 G
G
 A
A
 1 a0002c0001t0001g0193
a0002c0001t0001g0193
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1077+1317C>T
c.1077+1317C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710054
chr19:50710158 G
G
 A
A
 5 a0001c0002t0018g0127
a0001c0003t0066g0043
a0001c0003t0102g0303
others(2): Show 
a0001c0002t0018g0127
a0001c0003t0066g0043
a0001c0003t0102g0303
a0001c0004t0011g0048
a0001c0038t0094g0287
 5 HG02145.hp1
HG02258.hp1
HG02451.hp2
others(2): Show 
HG02145.hp1
HG02258.hp1
HG02451.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.1077+1213C>T
c.1077+1213C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710158
chr19:50710428 A
A
 AC
AC
 6 a0001c0003t0036g0004
a0001c0007t0070g0047
a0001c0014t0008g0230
others(3): Show 
a0001c0003t0036g0004
a0001c0007t0070g0047
a0001c0014t0008g0230
a0002c0001t0013g0121
a0002c0001t0054g0031
a0011c0031t0029g0129
 6 HG00741.hp2
HG02486.hp1
HG02809.hp1
others(3): Show 
HG00741.hp2
HG02486.hp1
HG02809.hp1
HG03710.hp1
HG06807.hp1
NA19067.hp1
 intron_variant MODIFIER c.1077+942dupG
c.1077+942dupG
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710428
chr19:50710556 A
A
 G
G
 3 a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
 3 HG02280.hp1
HG02717.hp1
HG03098.hp2
HG02280.hp1
HG02717.hp1
HG03098.hp2
 intron_variant MODIFIER c.1077+815T>C
c.1077+815T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710556
chr19:50710586 G
G
 T
T
 1 a0003c0005t0014g0220
a0003c0005t0014g0220
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1077+785C>A
c.1077+785C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710586
chr19:50710590 C
C
 T
T
 1 a0001c0004t0011g0048
a0001c0004t0011g0048
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1077+781G>A
c.1077+781G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710590
chr19:50710645 G
G
 T
T
 11 a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0004t0001g0104
others(8): Show 
a0001c0002t0001g0091
a0001c0002t0001g0119
a0001c0004t0001g0104
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0004g0135
a0002c0001t0062g0037
 11 HG00140.hp1
HG00639.hp1
HG00741.hp1
others(8): Show 
HG00140.hp1
HG00639.hp1
HG00741.hp1
HG01069.hp1
HG01109.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG03239.hp2
 intron_variant MODIFIER c.1077+726C>A
c.1077+726C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710645
chr19:50710729 C
C
 A
A
 1 a0001c0003t0074g0124
a0001c0003t0074g0124
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1077+642G>T
c.1077+642G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710729
chr19:50710777 GGCCTTTC
others(33): Show 
GGCCTTTCCCCTGTGCCCTGCCGTGCCGCCACGTGGCACCT
 G
G
 1 a0001c0002t0001g0093
a0001c0002t0001g0093
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1077+554_1077+593d
others(42): Show 
c.1077+554_1077+593delAGGTGCCACGTGGCGGCACGGCAGGGCA
CAGGGGAAAGGC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710777
chr19:50710987 C
C
 T
T
 1 a0001c0004t0026g0013
a0001c0004t0026g0013
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1077+384G>A
c.1077+384G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50710987
chr19:50711016 C
C
 A
A
 2 a0001c0004t0096g0297
a0007c0034t0007g0252
a0001c0004t0096g0297
a0007c0034t0007g0252
 2 HG02896.hp1
HG03209.hp1
HG02896.hp1
HG03209.hp1
 intron_variant MODIFIER c.1077+355G>T
c.1077+355G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711016
chr19:50711043 A
A
 G
G
 1 a0002c0001t0049g0023
a0002c0001t0049g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1077+328T>C
c.1077+328T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711043
chr19:50711124 C
C
 T
T
 2 a0001c0002t0001g0139
a0001c0002t0006g0140
a0001c0002t0001g0139
a0001c0002t0006g0140
 2 HG00642.hp1
HG01981.hp1
HG00642.hp1
HG01981.hp1
 intron_variant MODIFIER c.1077+247G>A
c.1077+247G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711124
chr19:50711157 T
T
 C
C
 2 a0001c0004t0008g0049
a0001c0016t0072g0069
a0001c0004t0008g0049
a0001c0016t0072g0069
 2 HG01884.hp1
HG02109.hp1
HG01884.hp1
HG02109.hp1
 intron_variant MODIFIER c.1077+214A>G
c.1077+214A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711157
chr19:50711182 T
T
 TTGGA
TTGGA
 58 a0001c0002t0001g0119
a0001c0002t0001g0250
a0001c0002t0006g0236
others(55): Show 
a0001c0002t0001g0119
a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0007g0269
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0018g0127
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0034g0002
a0001c0002t0041g0016
a0001c0002t0083g0229
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0003t0001g0059
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0074g0124
a0001c0003t0099g0308
a0001c0003t0102g0303
a0001c0004t0007g0063
a0001c0004t0010g0058
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0002c0001t0001g0057
a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0007g0221
a0002c0001t0019g0225
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0028t0020g0089
a0003c0005t0003g0100
a0003c0005t0014g0220
a0003c0006t0001g0248
a0003c0006t0012g0088
a0003c0006t0108g0309
a0009c0025t0004g0282
a0011c0031t0029g0129
a0013c0027t0011g0228
a0016c0035t0068g0041
 58 HG00140.hp2
HG00733.hp1
HG00738.hp1
others(55): Show 
HG00140.hp2
HG00733.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02056.hp2
HG02258.hp1
HG02486.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp2
NA19074.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1077+185_1077+188d
others(6): Show 
c.1077+185_1077+188dupTCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711182
chr19:50711182 T
T
 TTGGATGG
others(1): Show 
TTGGATGGA
 77 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0118
others(74): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0118
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0002g0108
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0277
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0033g0302
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0109g0312
a0001c0003t0001g0061
a0001c0003t0035g0003
a0001c0004t0001g0104
a0001c0004t0026g0018
a0001c0004t0028g0274
a0001c0004t0103g0310
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0211
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0013g0121
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0088g0281
a0002c0001t0106g0311
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0043g0020
a0003c0006t0005g0279
a0005c0022t0001g0092
a0010c0029t0001g0204
a0012c0026t0060g0038
a0014c0024t0078g0202
a0017c0036t0002g0294
a0018c0037t0005g0120
 77 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(74): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00735.hp2
HG00741.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG03017.hp1
HG03239.hp2
HG03490.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19084.hp1
NA19089.hp2
 intron_variant MODIFIER c.1077+181_1077+188d
others(10): Show 
c.1077+181_1077+188dupTCCATCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711182
chr19:50711182 T
T
 TTGGATGG
others(5): Show 
TTGGATGGATGGA
 2 a0001c0002t0009g0194
a0001c0002t0037g0006
a0001c0002t0009g0194
a0001c0002t0037g0006
 2 HG03831.hp1
HG04204.hp1
HG03831.hp1
HG04204.hp1
 intron_variant MODIFIER c.1077+177_1077+188d
others(14): Show 
c.1077+177_1077+188dupTCCATCCATCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711182
chr19:50711182 TTGGA
TTGGA
 T
T
 12 a0001c0002t0015g0138
a0001c0003t0023g0239
a0001c0003t0023g0240
others(9): Show 
a0001c0002t0015g0138
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0066g0043
a0001c0004t0008g0062
a0001c0004t0011g0048
a0001c0004t0096g0297
a0001c0014t0086g0242
a0001c0038t0094g0287
a0002c0001t0001g0137
a0002c0001t0065g0042
a0007c0034t0007g0252
 12 HG00673.hp2
HG02129.hp2
HG02145.hp1
others(9): Show 
HG00673.hp2
HG02129.hp2
HG02145.hp1
HG02451.hp2
HG02486.hp2
HG02809.hp2
HG02896.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
 intron_variant MODIFIER c.1077+185_1077+188d
others(6): Show 
c.1077+185_1077+188delTCCA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711182
chr19:50711269 G
G
 A
A
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1077+102C>T
c.1077+102C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 8/23 chr19 50711269
chr19:50711506 G
G
 A
A
 1 a0009c0025t0004g0282
a0009c0025t0004g0282
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.961-19C>T
c.961-19C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 7/23 chr19 50711506
chr19:50711541 T
T
 C
C
 16 a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
others(13): Show 
a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0082g0083
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0006c0023t0012g0085
a0008c0030t0071g0072
 16 HG02145.hp2
HG02257.hp2
HG02258.hp2
others(13): Show 
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02965.hp1
HG02965.hp2
HG03195.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA19240.hp1
 intron_variant MODIFIER c.961-54A>G
c.961-54A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 7/23 chr19 50711541
chr19:50711694 C
C
 T
T
 1 a0002c0001t0001g0137
a0002c0001t0001g0137
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.961-207G>A
c.961-207G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 7/23 chr19 50711694
chr19:50711843 A
A
 G
G
 2 a0001c0002t0034g0002
a0001c0003t0003g0292
a0001c0002t0034g0002
a0001c0003t0003g0292
 2 HG00323.hp2
HG03490.hp1
HG00323.hp2
HG03490.hp1
 intron_variant MODIFIER c.960+104T>C
c.960+104T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 7/23 chr19 50711843
chr19:50712122 C
C
 T
T
 7 a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0066g0043
others(4): Show 
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0066g0043
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0038t0094g0287
a0002c0001t0065g0042
 7 HG02109.hp1
HG02145.hp1
HG02486.hp2
others(4): Show 
HG02109.hp1
HG02145.hp1
HG02486.hp2
HG02809.hp2
HG03453.hp1
HG03486.hp1
HG03579.hp2
 splice_region_variant&intron_variant LOW c.793-8G>A
c.793-8G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712122
chr19:50712172 G
G
 C
C
 2 a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0011g0050
a0001c0003t0012g0051
 2 HG03139.hp1
NA19030.hp1
HG03139.hp1
NA19030.hp1
 intron_variant MODIFIER c.793-58C>G
c.793-58C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712172
chr19:50712231 C
C
 T
T
 16 a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
others(13): Show 
a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0082g0083
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0006c0023t0012g0085
a0008c0030t0071g0072
 16 HG02145.hp2
HG02257.hp2
HG02258.hp2
others(13): Show 
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02965.hp1
HG02965.hp2
HG03195.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA19240.hp1
 intron_variant MODIFIER c.793-117G>A
c.793-117G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712231
chr19:50712264 C
C
 A
A
 1 a0001c0002t0001g0119
a0001c0002t0001g0119
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.793-150G>T
c.793-150G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712264
chr19:50712374 T
T
 C
C
 144 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0118
others(141): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0236
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0194
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0010g0197
a0001c0002t0012g0134
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0037g0006
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0091g0115
a0001c0002t0095g0070
a0001c0002t0104g0307
a0001c0002t0109g0312
a0001c0003t0001g0059
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0053
a0001c0003t0007g0087
a0001c0003t0008g0231
a0001c0003t0010g0284
a0001c0003t0022g0243
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0074g0124
a0001c0003t0099g0308
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0010g0058
a0001c0004t0017g0245
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0057
a0002c0001t0001g0111
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0211
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0004g0135
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0046g0011
a0002c0001t0047g0024
a0002c0001t0048g0022
a0002c0001t0049g0023
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0069g0045
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0106g0311
a0002c0028t0020g0089
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0014g0220
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0013c0027t0011g0228
a0014c0024t0078g0202
a0017c0036t0002g0294
a0018c0037t0005g0120
 144 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18983.hp1
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19084.hp1
NA19089.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.793-260A>G
c.793-260A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712374
chr19:50712384 G
G
 A
A
 2 a0001c0003t0010g0284
a0003c0006t0006g0283
a0001c0003t0010g0284
a0003c0006t0006g0283
 2 HG02451.hp1
HG03041.hp2
HG02451.hp1
HG03041.hp2
 intron_variant MODIFIER c.793-270C>T
c.793-270C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712384
chr19:50712437 T
T
 C
C
 2 a0001c0004t0096g0297
a0007c0034t0007g0252
a0001c0004t0096g0297
a0007c0034t0007g0252
 2 HG02896.hp1
HG03209.hp1
HG02896.hp1
HG03209.hp1
 intron_variant MODIFIER c.793-323A>G
c.793-323A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712437
chr19:50712518 G
G
 T
T
 1 a0002c0001t0004g0135
a0002c0001t0004g0135
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.793-404C>A
c.793-404C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712518
chr19:50712634 C
C
 T
T
 1 a0001c0003t0073g0071
a0001c0003t0073g0071
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.793-520G>A
c.793-520G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712634
chr19:50712645 G
G
 C
C
 2 a0001c0002t0018g0127
a0001c0003t0102g0303
a0001c0002t0018g0127
a0001c0003t0102g0303
 2 HG02258.hp1
HG03209.hp2
HG02258.hp1
HG03209.hp2
 intron_variant MODIFIER c.793-531C>G
c.793-531C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712645
chr19:50712663 A
A
 C
C
 19 a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
others(16): Show 
a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0082g0083
a0001c0004t0011g0048
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0006c0023t0012g0085
a0008c0030t0071g0072
 19 HG02145.hp2
HG02257.hp2
HG02258.hp2
others(16): Show 
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02965.hp1
HG02965.hp2
HG03139.hp1
HG03195.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.793-549T>G
c.793-549T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712663
chr19:50712720 G
G
 T
T
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.793-606C>A
c.793-606C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712720
chr19:50712751 G
G
 A
A
 1 a0001c0003t0012g0051
a0001c0003t0012g0051
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.793-637C>T
c.793-637C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712751
chr19:50712859 T
T
 G
G
 1 a0001c0003t0035g0003
a0001c0003t0035g0003
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.793-745A>C
c.793-745A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50712859
chr19:50713164 G
G
 A
A
 4 a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0110g0313
others(1): Show 
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
 4 HG01243.hp2
HG02280.hp1
HG02717.hp1
others(1): Show 
HG01243.hp2
HG02280.hp1
HG02717.hp1
HG03098.hp2
 intron_variant MODIFIER c.792+634C>T
c.792+634C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713164
chr19:50713192 A
A
 G
G
 1 a0001c0002t0105g0304
a0001c0002t0105g0304
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.792+606T>C
c.792+606T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713192
chr19:50713405 C
C
 CTGTTTTC
others(33): Show 
CTGTTTTCAGGGTGTGTGTGGAGGGGCTCTATCTGGGGGCA
 1 a0001c0002t0001g0093
a0001c0002t0001g0093
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.792+353_792+392dup
others(40): Show 
c.792+353_792+392dupTGCCCCCAGATAGAGCCCCTCCACACACAC
CCTGAAAACA
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713405
chr19:50713429 G
G
 A
A
 2 a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0010t0001g0285
a0001c0010t0001g0286
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.792+369C>T
c.792+369C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713429
chr19:50713441 G
G
 C
C
 1 a0001c0016t0072g0069
a0001c0016t0072g0069
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.792+357C>G
c.792+357C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713441
chr19:50713546 C
C
 T
T
 1 a0001c0038t0094g0287
a0001c0038t0094g0287
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.792+252G>A
c.792+252G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713546
chr19:50713652 T
T
 G
G
 139 a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
others(136): Show 
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0195
a0001c0002t0001g0201
a0001c0002t0001g0203
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0295
a0001c0002t0003g0060
a0001c0002t0003g0196
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0236
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0010g0197
a0001c0002t0014g0198
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0246
a0001c0002t0033g0302
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0002t0100g0300
a0001c0002t0109g0312
a0001c0003t0001g0061
a0001c0003t0003g0253
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0008g0231
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0008g0049
a0001c0004t0008g0062
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0020t0008g0260
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0125
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0015g0200
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0046g0011
a0002c0001t0048g0022
a0002c0001t0054g0031
a0002c0001t0058g0035
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0069g0045
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0106g0311
a0002c0028t0020g0089
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0199
a0003c0005t0003g0241
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0101g0301
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0010c0029t0001g0204
a0011c0031t0029g0129
a0012c0026t0060g0038
a0014c0024t0078g0202
a0017c0036t0002g0294
a0018c0037t0005g0120
 139 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(136): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00621.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01975.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18974.hp2
NA18978.hp1
NA18983.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19084.hp1
NA19089.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.792+146A>C
c.792+146A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713652
chr19:50713759 G
G
 A
A
 1 a0001c0003t0010g0076
a0001c0003t0010g0076
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.792+39C>T
c.792+39C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 6/23 chr19 50713759
chr19:50714148 C
C
 T
T
 3 a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
 3 HG02280.hp1
HG02717.hp1
HG03098.hp2
HG02280.hp1
HG02717.hp1
HG03098.hp2
 intron_variant MODIFIER c.640+34G>A
c.640+34G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 5/23 chr19 50714148
chr19:50714293 G
G
 A
A
 121 a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
others(118): Show 
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0209
a0001c0002t0001g0250
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0236
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0019g0272
a0001c0002t0030g0246
a0001c0002t0031g0210
a0001c0002t0031g0227
a0001c0002t0033g0302
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0091g0115
a0001c0002t0104g0307
a0001c0003t0003g0253
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0008g0231
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0090g0067
a0001c0003t0099g0308
a0001c0004t0001g0104
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0026g0018
a0001c0004t0028g0234
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0103g0310
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0016t0063g0040
a0001c0021t0006g0102
a0001c0038t0094g0287
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0211
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0293
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0013g0121
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0046g0011
a0002c0001t0048g0022
a0002c0001t0054g0031
a0002c0001t0062g0037
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0028t0020g0089
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0101g0301
a0003c0006t0108g0309
a0007c0034t0007g0252
a0009c0025t0004g0282
a0013c0027t0011g0228
 121 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(118): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00639.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02135.hp2
HG02451.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18964.hp2
NA18970.hp1
NA18971.hp1
NA18983.hp1
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19003.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp1
NA19074.hp1
NA19089.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.532-3C>T
c.532-3C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714293
chr19:50714382 C
C
 T
T
 3 a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0073g0071
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0073g0071
 3 HG01243.hp2
HG03139.hp1
NA19030.hp1
HG01243.hp2
HG03139.hp1
NA19030.hp1
 intron_variant MODIFIER c.532-92G>A
c.532-92G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714382
chr19:50714473 C
C
 T
T
 24 a0001c0002t0011g0081
a0001c0002t0030g0132
a0001c0003t0004g0073
others(21): Show 
a0001c0002t0011g0081
a0001c0002t0030g0132
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0008g0049
a0001c0004t0011g0048
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0012g0077
a0001c0009t0022g0084
a0002c0001t0008g0288
a0003c0006t0012g0088
a0006c0023t0012g0085
a0008c0030t0071g0072
 24 HG02109.hp1
HG02145.hp2
HG02257.hp2
others(21): Show 
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.532-183G>A
c.532-183G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714473
chr19:50714690 C
C
 CA
CA
 139 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(136): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0001g0250
a0001c0002t0001g0261
a0001c0002t0002g0108
a0001c0002t0002g0218
a0001c0002t0002g0295
a0001c0002t0003g0276
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0006g0238
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0009g0099
a0001c0002t0009g0222
a0001c0002t0009g0223
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0018g0127
a0001c0002t0019g0272
a0001c0002t0021g0021
a0001c0002t0030g0246
a0001c0002t0031g0227
a0001c0002t0037g0006
a0001c0002t0040g0009
a0001c0002t0051g0026
a0001c0002t0052g0025
a0001c0002t0083g0229
a0001c0002t0091g0115
a0001c0002t0104g0307
a0001c0003t0003g0253
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0004g0224
a0001c0003t0004g0226
a0001c0003t0004g0254
a0001c0003t0007g0065
a0001c0003t0008g0231
a0001c0003t0010g0284
a0001c0003t0012g0068
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0035g0003
a0001c0003t0044g0010
a0001c0003t0066g0043
a0001c0003t0074g0124
a0001c0003t0090g0067
a0001c0004t0001g0104
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0017g0245
a0001c0004t0026g0018
a0001c0004t0028g0274
a0001c0004t0076g0244
a0001c0004t0103g0310
a0001c0007t0007g0216
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0007t0070g0047
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0009t0007g0270
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0014t0008g0230
a0001c0014t0086g0242
a0001c0015t0001g0101
a0001c0015t0027g0028
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0002g0296
a0002c0001t0005g0110
a0002c0001t0005g0128
a0002c0001t0005g0213
a0002c0001t0005g0219
a0002c0001t0007g0221
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0011g0232
a0002c0001t0011g0233
a0002c0001t0018g0262
a0002c0001t0019g0225
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0024g0247
a0002c0001t0027g0029
a0002c0001t0046g0011
a0002c0001t0048g0022
a0002c0001t0054g0031
a0002c0001t0059g0036
a0002c0001t0061g0039
a0002c0001t0062g0037
a0002c0001t0065g0042
a0002c0001t0087g0095
a0002c0001t0088g0281
a0002c0001t0089g0217
a0002c0001t0092g0215
a0002c0001t0106g0311
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0003g0241
a0003c0005t0014g0220
a0003c0005t0020g0214
a0003c0005t0043g0020
a0003c0006t0001g0248
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0014g0212
a0003c0006t0101g0301
a0003c0006t0108g0309
a0005c0022t0001g0092
a0009c0025t0004g0282
a0011c0031t0029g0129
a0013c0027t0011g0228
a0017c0036t0002g0294
 139 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(136): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp2
HG01993.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18978.hp2
NA18983.hp1
NA18986.hp1
NA18997.hp1
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19084.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.532-401dupT
c.532-401dupT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714690
chr19:50714690 C
C
 CAA
CAA
 10 a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0004t0028g0234
others(7): Show 
a0001c0002t0041g0016
a0001c0002t0050g0027
a0001c0004t0028g0234
a0001c0016t0072g0069
a0001c0038t0094g0287
a0002c0001t0002g0293
a0002c0001t0013g0121
a0002c0001t0058g0035
a0007c0034t0007g0252
a0018c0037t0005g0120
 10 HG01192.hp1
HG01884.hp1
HG02738.hp2
others(7): Show 
HG01192.hp1
HG01884.hp1
HG02738.hp2
HG02896.hp1
HG02976.hp1
HG03486.hp1
HG03669.hp2
NA18978.hp1
NA19003.hp1
NA19067.hp1
 intron_variant MODIFIER c.532-402_532-401dup
others(2): Show 
c.532-402_532-401dupTT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714690
chr19:50714690 CA
CA
 C
C
 28 a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0030g0132
others(25): Show 
a0001c0002t0011g0081
a0001c0002t0012g0134
a0001c0002t0030g0132
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0053
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0008g0049
a0001c0004t0011g0048
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0007t0012g0077
a0001c0009t0022g0084
a0001c0011t0001g0052
a0001c0013t0024g0122
a0002c0001t0008g0288
a0002c0001t0017g0133
a0002c0008t0097g0298
a0003c0006t0012g0088
a0006c0023t0012g0085
a0008c0030t0071g0072
 28 HG01167.hp2
HG01515.hp1
HG01993.hp2
others(25): Show 
HG01167.hp2
HG01515.hp1
HG01993.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19056.hp2
NA19084.hp2
NA19240.hp1
 intron_variant MODIFIER c.532-401delT
c.532-401delT
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714690
chr19:50714692 A
A
 C
C
 2 a0001c0002t0009g0131
a0001c0002t0084g0130
a0001c0002t0009g0131
a0001c0002t0084g0130
 2 HG03491.hp2
HG03492.hp2
HG03491.hp2
HG03492.hp2
 intron_variant MODIFIER c.532-402T>G
c.532-402T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714692
chr19:50714979 T
T
 A
A
 1 a0011c0031t0029g0129
a0011c0031t0029g0129
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.531+680A>T
c.531+680A>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50714979
chr19:50715051 G
G
 C
C
 1 a0001c0003t0003g0253
a0001c0003t0003g0253
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.531+608C>G
c.531+608C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50715051
chr19:50715207 G
G
 A
A
 9 a0001c0002t0018g0127
a0001c0003t0025g0012
a0001c0003t0074g0124
others(6): Show 
a0001c0002t0018g0127
a0001c0003t0025g0012
a0001c0003t0074g0124
a0001c0003t0102g0303
a0001c0018t0003g0126
a0001c0018t0077g0123
a0002c0001t0002g0125
a0002c0001t0005g0128
a0011c0031t0029g0129
 9 HG01167.hp1
HG01169.hp1
HG01891.hp2
others(6): Show 
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02258.hp1
HG02486.hp1
HG02886.hp1
HG02896.hp2
HG02970.hp2
HG03209.hp2
 intron_variant MODIFIER c.531+452C>T
c.531+452C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50715207
chr19:50715228 C
C
 T
T
 4 a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
others(1): Show 
a0001c0003t0004g0073
a0001c0003t0007g0074
a0001c0003t0010g0076
a0001c0003t0022g0075
 4 HG02145.hp2
HG02572.hp1
HG02965.hp2
others(1): Show 
HG02145.hp2
HG02572.hp1
HG02965.hp2
NA19240.hp1
 intron_variant MODIFIER c.531+431G>A
c.531+431G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50715228
chr19:50715544 G
G
 A
A
 1 a0001c0003t0102g0303
a0001c0003t0102g0303
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.531+115C>T
c.531+115C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50715544
chr19:50715583 G
G
 A
A
 2 a0001c0003t0025g0008
a0001c0016t0072g0069
a0001c0003t0025g0008
a0001c0016t0072g0069
 2 HG01884.hp1
HG02109.hp2
HG01884.hp1
HG02109.hp2
 intron_variant MODIFIER c.531+76C>T
c.531+76C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 4/23 chr19 50715583
chr19:50715795 G
G
 A
A
 1 a0002c0001t0049g0023
a0002c0001t0049g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.460-65C>T
c.460-65C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 3/23 chr19 50715795
chr19:50715800 G
G
 A
A
 32 a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0006g0238
others(29): Show 
a0001c0002t0001g0250
a0001c0002t0006g0236
a0001c0002t0006g0238
a0001c0002t0018g0127
a0001c0002t0030g0246
a0001c0002t0041g0016
a0001c0003t0003g0253
a0001c0003t0004g0254
a0001c0003t0022g0243
a0001c0003t0023g0239
a0001c0003t0023g0240
a0001c0003t0025g0012
a0001c0003t0074g0124
a0001c0003t0102g0303
a0001c0004t0017g0245
a0001c0004t0076g0244
a0001c0007t0008g0237
a0001c0007t0042g0015
a0001c0009t0004g0249
a0001c0009t0007g0251
a0001c0014t0086g0242
a0001c0016t0063g0040
a0001c0018t0003g0126
a0001c0018t0077g0123
a0001c0019t0020g0235
a0002c0001t0002g0125
a0002c0001t0005g0128
a0002c0001t0024g0247
a0003c0005t0003g0241
a0003c0006t0001g0248
a0007c0034t0007g0252
a0011c0031t0029g0129
 32 HG00733.hp1
HG00735.hp1
HG01070.hp1
others(29): Show 
HG00733.hp1
HG00735.hp1
HG01070.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01257.hp1
HG01261.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG02258.hp1
HG02486.hp1
HG02622.hp2
HG02723.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18906.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.460-70C>T
c.460-70C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 3/23 chr19 50715800
chr19:50715822 C
C
 T
T
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.460-92G>A
c.460-92G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 3/23 chr19 50715822
chr19:50715823 T
T
 C
C
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.460-93A>G
c.460-93A>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 3/23 chr19 50715823
chr19:50715834 C
C
 CG
CG
 24 a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
others(21): Show 
a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0012g0077
a0001c0009t0022g0084
a0002c0001t0008g0288
a0003c0006t0012g0088
a0006c0023t0012g0085
a0008c0030t0071g0072
 24 HG01243.hp2
HG02145.hp2
HG02257.hp2
others(21): Show 
HG01243.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.460-105dupC
c.460-105dupC
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 3/23 chr19 50715834
chr19:50715911 G
G
 A
A
 1 a0001c0003t0004g0254
a0001c0003t0004g0254
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.460-181C>T
c.460-181C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 3/23 chr19 50715911
chr19:50716079 C
C
 G
G
 23 a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
others(20): Show 
a0001c0002t0011g0081
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0074g0124
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0110g0313
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0012g0077
a0001c0009t0022g0084
a0001c0018t0077g0123
a0002c0001t0008g0288
a0003c0006t0012g0088
a0006c0023t0012g0085
a0008c0030t0071g0072
 23 HG02145.hp2
HG02257.hp2
HG02258.hp2
others(20): Show 
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.459+196G>C
c.459+196G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 3/23 chr19 50716079
chr19:50717188 C
C
 T
T
 9 a0001c0002t0018g0127
a0001c0003t0025g0012
a0001c0003t0074g0124
others(6): Show 
a0001c0002t0018g0127
a0001c0003t0025g0012
a0001c0003t0074g0124
a0001c0003t0102g0303
a0001c0018t0003g0126
a0001c0018t0077g0123
a0002c0001t0002g0125
a0002c0001t0005g0128
a0011c0031t0029g0129
 9 HG01167.hp1
HG01169.hp1
HG01891.hp2
others(6): Show 
HG01167.hp1
HG01169.hp1
HG01891.hp2
HG02258.hp1
HG02486.hp1
HG02886.hp1
HG02896.hp2
HG02970.hp2
HG03209.hp2
 intron_variant MODIFIER c.-43-226G>A
c.-43-226G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50717188
chr19:50717520 A
A
 G
G
 3 a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0073g0071
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0073g0071
 3 HG01243.hp2
HG03139.hp1
NA19030.hp1
HG01243.hp2
HG03139.hp1
NA19030.hp1
 intron_variant MODIFIER c.-43-558T>C
c.-43-558T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50717520
chr19:50717558 C
C
 T
T
 1 a0001c0013t0024g0122
a0001c0013t0024g0122
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.-43-596G>A
c.-43-596G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50717558
chr19:50717559 G
G
 A
A
 2 a0001c0002t0050g0027
a0002c0001t0013g0256
a0001c0002t0050g0027
a0002c0001t0013g0256
 2 HG02738.hp2
NA19074.hp2
HG02738.hp2
NA19074.hp2
 intron_variant MODIFIER c.-43-597C>T
c.-43-597C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50717559
chr19:50717630 G
G
 A
A
 4 a0001c0002t0002g0258
a0001c0002t0005g0257
a0001c0002t0005g0259
others(1): Show 
a0001c0002t0002g0258
a0001c0002t0005g0257
a0001c0002t0005g0259
a0002c0001t0021g0017
 4 HG00544.hp1
HG02071.hp1
HG02129.hp1
others(1): Show 
HG00544.hp1
HG02071.hp1
HG02129.hp1
NA18951.hp2
 intron_variant MODIFIER c.-43-668C>T
c.-43-668C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50717630
chr19:50717680 C
C
 T
T
 48 a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
others(45): Show 
a0001c0002t0001g0091
a0001c0002t0001g0093
a0001c0002t0001g0096
a0001c0002t0001g0118
a0001c0002t0001g0119
a0001c0002t0002g0108
a0001c0002t0002g0295
a0001c0002t0005g0116
a0001c0002t0006g0109
a0001c0002t0009g0099
a0001c0002t0015g0114
a0001c0002t0016g0112
a0001c0002t0021g0021
a0001c0002t0033g0302
a0001c0002t0040g0009
a0001c0002t0052g0025
a0001c0002t0091g0115
a0001c0003t0004g0097
a0001c0003t0004g0098
a0001c0003t0044g0010
a0001c0004t0001g0104
a0001c0012t0001g0106
a0001c0012t0006g0103
a0001c0012t0014g0105
a0001c0015t0001g0101
a0001c0021t0006g0102
a0001c0039t0006g0107
a0002c0001t0001g0111
a0002c0001t0002g0094
a0002c0001t0002g0113
a0002c0001t0002g0293
a0002c0001t0002g0296
a0002c0001t0005g0090
a0002c0001t0005g0110
a0002c0001t0013g0121
a0002c0001t0046g0011
a0002c0001t0048g0022
a0002c0001t0059g0036
a0002c0001t0062g0037
a0002c0001t0087g0095
a0002c0001t0106g0311
a0002c0028t0020g0089
a0003c0005t0003g0100
a0003c0005t0003g0117
a0003c0005t0043g0020
a0005c0022t0001g0092
a0017c0036t0002g0294
a0018c0037t0005g0120
 48 HG00140.hp1
HG00408.hp1
HG00408.hp2
others(45): Show 
HG00140.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01261.hp2
HG01433.hp1
HG01993.hp1
HG02027.hp1
HG02056.hp2
HG02071.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG03239.hp2
HG03669.hp2
HG03942.hp1
HG06807.hp2
NA18612.hp1
NA18960.hp2
NA18983.hp1
NA18998.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19011.hp2
NA19060.hp1
NA19067.hp1
NA19074.hp1
NA19084.hp1
NA19089.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-43-718G>A
c.-43-718G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50717680
chr19:50717739 C
C
 A
A
 60 a0001c0002t0001g0261
a0001c0002t0003g0276
a0001c0002t0006g0277
others(57): Show 
a0001c0002t0001g0261
a0001c0002t0003g0276
a0001c0002t0006g0277
a0001c0002t0007g0269
a0001c0002t0011g0081
a0001c0002t0019g0272
a0001c0002t0037g0006
a0001c0002t0051g0026
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0010g0284
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0035g0003
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0099g0308
a0001c0003t0110g0313
a0001c0004t0016g0080
a0001c0004t0026g0018
a0001c0004t0028g0274
a0001c0004t0080g0082
a0001c0004t0103g0310
a0001c0007t0012g0077
a0001c0009t0007g0270
a0001c0009t0022g0084
a0001c0010t0001g0285
a0001c0010t0001g0286
a0001c0011t0001g0280
a0001c0011t0006g0267
a0001c0020t0008g0260
a0001c0038t0094g0287
a0002c0001t0002g0268
a0002c0001t0002g0271
a0002c0001t0002g0273
a0002c0001t0002g0275
a0002c0001t0008g0265
a0002c0001t0008g0266
a0002c0001t0008g0288
a0002c0001t0010g0263
a0002c0001t0010g0264
a0002c0001t0018g0262
a0002c0001t0019g0278
a0002c0001t0021g0019
a0002c0001t0054g0031
a0002c0001t0088g0281
a0003c0006t0005g0279
a0003c0006t0006g0283
a0003c0006t0012g0088
a0003c0006t0108g0309
a0006c0023t0012g0085
a0008c0030t0071g0072
a0009c0025t0004g0282
 60 HG00323.hp1
HG01192.hp2
HG01243.hp2
others(57): Show 
HG00323.hp1
HG01192.hp2
HG01243.hp2
HG01257.hp2
HG01258.hp1
HG01516.hp1
HG01517.hp1
HG01975.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18964.hp2
NA18966.hp2
NA18970.hp1
NA18971.hp1
NA18997.hp1
NA18998.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.-43-777G>T
c.-43-777G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50717739
chr19:50718041 C
C
 G
G
 1 a0002c0001t0002g0290
a0002c0001t0002g0290
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.-43-1079G>C
c.-43-1079G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718041
chr19:50718043 A
A
 C
C
 51 a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0011g0081
others(48): Show 
a0001c0002t0003g0056
a0001c0002t0003g0060
a0001c0002t0011g0081
a0001c0002t0095g0070
a0001c0002t0100g0300
a0001c0003t0001g0059
a0001c0003t0001g0061
a0001c0003t0004g0054
a0001c0003t0004g0073
a0001c0003t0004g0079
a0001c0003t0007g0053
a0001c0003t0007g0065
a0001c0003t0007g0074
a0001c0003t0007g0087
a0001c0003t0010g0076
a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0012g0068
a0001c0003t0017g0086
a0001c0003t0022g0075
a0001c0003t0023g0078
a0001c0003t0025g0008
a0001c0003t0066g0043
a0001c0003t0073g0071
a0001c0003t0075g0289
a0001c0003t0082g0083
a0001c0003t0090g0067
a0001c0003t0110g0313
a0001c0004t0007g0063
a0001c0004t0008g0062
a0001c0004t0010g0058
a0001c0004t0015g0066
a0001c0004t0016g0064
a0001c0004t0016g0080
a0001c0004t0080g0082
a0001c0004t0096g0297
a0001c0007t0012g0077
a0001c0007t0070g0047
a0001c0009t0022g0084
a0001c0011t0001g0052
a0001c0016t0072g0069
a0002c0001t0001g0057
a0002c0001t0008g0055
a0002c0001t0008g0288
a0002c0001t0065g0042
a0003c0006t0012g0088
a0003c0006t0045g0007
a0003c0006t0101g0301
a0006c0023t0012g0085
a0008c0030t0071g0072
a0016c0035t0068g0041
 51 HG01074.hp1
HG01106.hp1
HG01167.hp2
others(48): Show 
HG01074.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG02055.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03471.hp2
HG03654.hp2
HG03669.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.-43-1081T>G
c.-43-1081T>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718043
chr19:50718230 C
C
 A
A
 3 a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
a0001c0003t0075g0289
a0001c0003t0110g0313
a0002c0001t0008g0288
 3 HG02280.hp1
HG02717.hp1
HG03098.hp2
HG02280.hp1
HG02717.hp1
HG03098.hp2
 intron_variant MODIFIER c.-44+1176G>T
c.-44+1176G>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718230
chr19:50718546 G
G
 C
C
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-44+860C>G
c.-44+860C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718546
chr19:50718548 G
G
 C
C
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-44+858C>G
c.-44+858C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718548
chr19:50718549 C
C
 G
G
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-44+857G>C
c.-44+857G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718549
chr19:50718743 G
G
 A
A
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-44+663C>T
c.-44+663C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718743
chr19:50718744 A
A
 G
G
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-44+662T>C
c.-44+662T>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718744
chr19:50718791 G
G
 A
A
 2 a0002c0001t0002g0290
a0002c0001t0002g0291
a0002c0001t0002g0290
a0002c0001t0002g0291
 2 NA18950.hp2
NA18983.hp2
NA18950.hp2
NA18983.hp2
 intron_variant MODIFIER c.-44+615C>T
c.-44+615C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718791
chr19:50718823 C
C
 G
G
 2 a0001c0004t0008g0049
a0001c0004t0011g0048
a0001c0004t0008g0049
a0001c0004t0011g0048
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.-44+583G>C
c.-44+583G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718823
chr19:50718991 G
G
 T
T
 2 a0001c0003t0011g0050
a0001c0003t0012g0051
a0001c0003t0011g0050
a0001c0003t0012g0051
 2 HG03139.hp1
NA19030.hp1
HG03139.hp1
NA19030.hp1
 intron_variant MODIFIER c.-44+415C>A
c.-44+415C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50718991
chr19:50719036 G
G
 A
A
 3 a0001c0002t0034g0002
a0001c0003t0003g0292
a0002c0001t0047g0024
a0001c0002t0034g0002
a0001c0003t0003g0292
a0002c0001t0047g0024
 3 HG00323.hp2
HG01358.hp1
HG03490.hp1
HG00323.hp2
HG01358.hp1
HG03490.hp1
 intron_variant MODIFIER c.-44+370C>T
c.-44+370C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719036
chr19:50719037 C
C
 T
T
 3 a0001c0002t0034g0002
a0001c0003t0003g0292
a0002c0001t0047g0024
a0001c0002t0034g0002
a0001c0003t0003g0292
a0002c0001t0047g0024
 3 HG00323.hp2
HG01358.hp1
HG03490.hp1
HG00323.hp2
HG01358.hp1
HG03490.hp1
 intron_variant MODIFIER c.-44+369G>A
c.-44+369G>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719037
chr19:50719039 G
G
 A
A
 3 a0001c0002t0034g0002
a0001c0003t0003g0292
a0002c0001t0047g0024
a0001c0002t0034g0002
a0001c0003t0003g0292
a0002c0001t0047g0024
 3 HG00323.hp2
HG01358.hp1
HG03490.hp1
HG00323.hp2
HG01358.hp1
HG03490.hp1
 intron_variant MODIFIER c.-44+367C>T
c.-44+367C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719039
chr19:50719091 C
C
 G
G
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-44+315G>C
c.-44+315G>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719091
chr19:50719093 G
G
 C
C
 1 a0002c0001t0002g0293
a0002c0001t0002g0293
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.-44+313C>G
c.-44+313C>G
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719093
chr19:50719161 T
T
 G
G
 7 a0001c0002t0002g0295
a0001c0002t0021g0021
a0002c0001t0002g0296
others(4): Show 
a0001c0002t0002g0295
a0001c0002t0021g0021
a0002c0001t0002g0296
a0002c0001t0059g0036
a0002c0001t0106g0311
a0003c0005t0043g0020
a0017c0036t0002g0294
 7 HG00423.hp2
HG00597.hp2
HG02071.hp2
others(4): Show 
HG00423.hp2
HG00597.hp2
HG02071.hp2
HG02135.hp1
NA18960.hp2
NA19000.hp2
NA19084.hp1
 intron_variant MODIFIER c.-44+245A>C
c.-44+245A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719161
chr19:50719174 T
T
 G
G
 1 a0001c0016t0063g0040
a0001c0016t0063g0040
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-44+232A>C
c.-44+232A>C
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719174
chr19:50719233 G
G
 T
T
 2 a0001c0004t0008g0049
a0001c0004t0011g0048
a0001c0004t0008g0049
a0001c0004t0011g0048
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.-44+173C>A
c.-44+173C>A
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719233
chr19:50719336 G
G
 A
A
 1 a0001c0002t0050g0027
a0001c0002t0050g0027
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.-44+70C>T
c.-44+70C>T
SHANK1 ENSG00000161681.17 transcript ENST00000293441.6 protein_coding 1/23 chr19 50719336

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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